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Tytuł :
CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty.
Autorzy :
Lau CL; Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China.
Chee YY; Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China .
Wong MSR; Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China.
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Źródło :
BMJ case reports [BMJ Case Rep] 2020 Jul 22; Vol. 13 (7). Date of Electronic Publication: 2020 Jul 22.
Typ publikacji :
Journal Article
Journal Info :
Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Autorzy :
Yeung KS; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Yu FNY; Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Fung CW; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Wong S; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Lee HHC; Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Fung STH; Department of Paediatrics, Kwong Wah Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Fung GPG; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Leung KY; Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Chung WH; Department of Obstetrics and Gynaecology, United Christian Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Lee YT; Department of Obstetrics and Gynaecology, Princess Margaret Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Ng VKS; Department of Obstetrics and Gyanecology, Kwong Wah Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Yu MHC; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Fung JLF; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Tsang MHY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Chan KYK; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong Special Administrative Region, Hong Kong, China.; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Chan SHS; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Kan ASY; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong Special Administrative Region, Hong Kong, China.; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jul; Vol. 8 (7), pp. e1229. Date of Electronic Publication: 2020 Apr 30.
Typ publikacji :
Journal Article
Journal Info :
Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome.
Autorzy :
Willis BR; LKS Faculty of Medicine, Department of Pediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China.
Lee M; LKS Faculty of Medicine, Department of Pediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China.
Rethanavelu K; LKS Faculty of Medicine, Department of Pediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China.
Fung JLF; LKS Faculty of Medicine, Department of Pediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China.
Wong RMS; Department of Pediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong SAR, China.
Hui P; Department of Pediatric Cardiology, Queen Mary Hospital, Hong Kong SAR, China.
Yeung KS; LKS Faculty of Medicine, Department of Pediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China.
Lo IFM; Department of Health, Clinical Genetic Service, Hong Kong SAR, China.
Chung BHY; LKS Faculty of Medicine, Department of Pediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jun; Vol. 182 (6), pp. 1329-1335. Date of Electronic Publication: 2020 Mar 21.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am. J. Med. Genet. A Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Autorzy :
Choufani S; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Gibson WT; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Turinsky AL; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Chung BHY; Pediatrics and Adolescent Medicine, Queen Mary Hospital and Hong Kong Children's Hospital, The University of Hong Kong, 999077 Hong Kong.
Wang T; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Garg K; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Vitriolo A; Department of Oncology and Hemato-oncology, University of Milan, Milan 20122, Italy; Laboratory of Stem Cell Epigenetics, IEO, European Institute of Oncology, IRCCS, Milan 20139, Italy.
Cohen ASA; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Cyrus S; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Goodman S; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Chater-Diehl E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Brzezinski J; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Haematology and Oncology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
Brudno M; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 3H5, Canada.
Ming LH; Clinical Genetic Service, Department of Health, 999077 Hong Kong.
White SM; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
Lynch SA; Department of Clinical Genetics, Temple Street Children's University Hospital, Dublin, D01 XD99, Ireland.
Clericuzio C; Pediatric Genetics, University of New Mexico, Albuquerque, NM 87131, USA.
Temple IK; Faculty of Medicine, University of Southampton and the Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.
Flinter F; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK.
McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast BT9 7AB, UK.
Cushing T; Pediatric Genetics, University of New Mexico, Albuquerque, NM 87131, USA.
Bird LM; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Division of Genetics, Rady Children's Hospital of San Diego, San Diego, CA 92123, USA.
Splitt M; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne NE1 3BZ, UK.
Kerr B; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK.
Scherer SW; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1X8 Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada.
Machado J; PreventionGenetics, Marshfield, WI 54449, USA.
Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.
Okamoto N; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka 594-1101, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.
Testa G; Department of Oncology and Hemato-oncology, University of Milan, Milan 20122, Italy; Laboratory of Stem Cell Epigenetics, IEO, European Institute of Oncology, IRCCS, Milan 20139, Italy; Human Technopole, Center for Neurogenomics, Via Cristina Belgioioso 171, Milan 20157, Italy.
Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Piazza OMS 1, 24127 Bergamo, Italy.
Tenconi R; Dipartimento Pediatria, University of Padova, Via Giustiani 3, 35128 Padova, Italy.
Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada; The Stollery Pediatric Hospital, Edmonton, AB T6G 2H7, Canada.
Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.
Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada; Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada.
Cytrynbaum C; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.
Tatton-Brown K; St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK; St George's, University of London, London SW17 0RE, UK; Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK.
Weksberg R; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2020 May 07; Vol. 106 (5), pp. 596-610. Date of Electronic Publication: 2020 Apr 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
DNA Methylation*
Mutation*
Abnormalities, Multiple/*genetics
Congenital Hypothyroidism/*genetics
Craniofacial Abnormalities/*genetics
Enhancer of Zeste Homolog 2 Protein/*genetics
Hand Deformities, Congenital/*genetics
Intellectual Disability/*genetics
Polycomb Repressive Complex 2/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; Female ; Humans ; Infant ; Male ; Mosaicism ; Mutation, Missense/genetics ; Reproducibility of Results ; Young Adult
SCR Disease Name :
Weaver syndrome
Czasopismo naukowe
Tytuł :
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
Autorzy :
Lennox AL; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA.
Hoye ML; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA.
Jiang R; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
Johnson-Kerner BL; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
Suit LA; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
Venkataramanan S; Department of Cell and Tissue Biology, University of California, San Francisco, San Francisco, CA 94158, USA.
Sheehan CJ; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA.
Alsina FC; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA.
Fregeau B; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Moey C; The University of Queensland, Queensland Brain Institute, Brisbane, QLD 4072, Australia.
Lobach I; Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA 94158, USA.
Afenjar A; Centre de référence des malformations et maladies congénitales du cervelet et Département de génétique et embryologie médicale, APHP, Sorbonne Université, Hôpital Armand Trousseau, 75012 Paris, France.
Babovic-Vuksanovic D; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Bézieau S; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Bunt J; The University of Queensland, Queensland Brain Institute, Brisbane, QLD 4072, Australia.
Burglen L; Centre de référence des malformations et maladies congénitales du cervelet et Département de génétique et embryologie médicale, APHP, Sorbonne Université, Hôpital Armand Trousseau, 75012 Paris, France.
Campeau PM; Department of Pediatrics, University of Montreal and CHU Sainte-Justine, Montreal, QC, Canada.
Charles P; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et Hôpital Trousseau, APHP, Sorbonne Université, Paris, France.
Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Cogné B; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
Curry C; Genetic Medicine, University of California San Francisco/Fresno, Fresno, CA 93701, USA.
D'Agostino MD; Division of Medical Genetics, Departments of Specialized Medicine and Human Genetics, McGill University, Montreal, QC, Canada.
Di Donato N; Institute for Clinical Genetics, TU Dresden, Dresden, Germany.
Faivre L; Centre de référence Anomalies du Développement et Syndromes Malformatifs, INSERM UMR 1231 GAD, CHU de Dijon et Université de Bourgogne, Dijon, France.
Héron D; APHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France.
Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Isidor B; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
Keren B; APHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France.
Kimball A; Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.
Klee EW; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Kuentz P; UMR-INSERM 1231 GAD, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.
Küry S; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
Martin-Coignard D; Service de Génétique, Centre hospitalier du Mans, Le Mans, France.
Mirzaa G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.
Mignot C; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et Hôpital Trousseau, APHP, Sorbonne Université, Paris, France.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Nava C; APHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France.
Nizon M; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
Rodriguez D; Centre de Référence Neurogénétique & Service de Neurologie Pédiatrique, APHP, Sorbonne Université, Hôpital Armand Trousseau, 75012 Paris, France.
Blok LS; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Thauvin-Robinet C; Centre de référence Déficience Intellectuelle, INSERM UMR 1231 GAD, CHU de Dijon et Université de Bourgogne, Dijon, France.
Thevenon J; Centre de référence Anomalies du Développement et Syndromes Malformatifs, INSERM UMR 1231 GAD, CHU de Dijon et Université de Bourgogne, Dijon, France.
Vincent M; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
Ziegler A; Service de Génétique, CHU d'Angers, Angers, France.
Dobyns W; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Departments of Pediatrics and Neurology, University of Washington, Seattle, WA 98101, USA.
Richards LJ; The University of Queensland, Queensland Brain Institute, Brisbane, QLD 4072, Australia; The University of Queensland, School of Biomedical Sciences, Brisbane 4072, QLD, Australia.
Barkovich AJ; Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA 94158, USA.
Floor SN; Department of Cell and Tissue Biology, University of California, San Francisco, San Francisco, CA 94158, USA; Helen Diller Family Comprehensive Cancer Center, San Francisco, CA 94158, USA.
Silver DL; Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA; Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA; Department of Neurobiology, Duke University Medical Center, Durham, NC 27710, USA; Duke Institute for Brain Sciences, Duke University, Durham, NC 27710, USA. Electronic address: .
Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address: .
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Źródło :
Neuron [Neuron] 2020 May 06; Vol. 106 (3), pp. 404-420.e8. Date of Electronic Publication: 2020 Mar 04.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Autorzy :
Tsang MHY; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Chiu ATG; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Kwong BMH; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Liang R; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Yu MHC; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Yeung KS; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Ho WHL; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Mak CCY; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Leung GKC; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Pei SLC; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Fung JLF; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Wong VCN; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Muntoni F; Dubowitz Neuromuscular Centre, University College London, Institute of Child Health, London, UK.
Chung BHY; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Chan SHS; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 May; Vol. 8 (5), pp. e1205. Date of Electronic Publication: 2020 Mar 10.
Typ publikacji :
Journal Article
Journal Info :
Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong.
Autorzy :
Chung CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.
Chan KYK; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, Special Administrative Region, China.; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China.
Hui PW; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, Special Administrative Region, China.
Au PKC; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, Special Administrative Region, China.; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China.
Tam WK; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, Special Administrative Region, China.; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China.
Li SKM; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, Special Administrative Region, China.; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China.
Leung GKC; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China.
Fung JLF; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.
Chan MCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.
Luk HM; Department of Health, Clinical Genetic Service, Hong Kong, Special Administrative Region, China.
Mak ASL; Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong, Special Administrative Region, China.
Leung KY; Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong, Special Administrative Region, China.
Tang MHY; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China.; Department of Obstetrics and Gynaecology, The University of Hong Kong, Hong Kong, Special Administrative Region, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China. .; Department of Obstetrics and Gynaecology, The University of Hong Kong, Hong Kong, Special Administrative Region, China. .
Kan ASY; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, Special Administrative Region, China. .; Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China. .
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Źródło :
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2020 Feb 14; Vol. 20 (1), pp. 109. Date of Electronic Publication: 2020 Feb 14.
Typ publikacji :
Journal Article
Journal Info :
Publisher: BioMed Central Country of Publication: England NLM ID: 100967799 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2393 (Electronic) Linking ISSN: 14712393 NLM ISO Abbreviation: BMC Pregnancy Childbirth Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.
Autorzy :
Rethanavelu K; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.; Clinical Genetic Services, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
Fung JLF; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Chau JFT; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Pei SLC; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Chung CCY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Mak CCY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Luk HM; Department of Health, Clinical Genetic Service, Hong Kong, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Feb; Vol. 182 (2), pp. 279-288. Date of Electronic Publication: 2019 Nov 22.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am. J. Med. Genet. A Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Turner syndrome in diverse populations.
Autorzy :
Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Tekendo-Ngongang C; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
Savage SK; FDNA Inc., Boston, Massachusetts.
Gupta N; Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India.
Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Paththinige CS; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Aravena T; Departamento de Medicina, Hospital Clínico de la Universidad de Chile, Santiago, Chile.
Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kerala, India.
Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kerala, India.
Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Patil SJ; Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospital, Bangalore, India.
Jamuar SS; Genetics service, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore, Singapore.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.
Goh JC; Division of Nursing - Nursing Specialist Services, KK Women's and Children's Hospital, Singapore, Singapore.
Utari A; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.
Sihombing N; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.
Mishra R; Division of Human Genetics, Civil Service Hospital, Kathmandu, Nepal.
Chitrakar NS; Division of Human Genetics, Civil Service Hospital, Kathmandu, Nepal.
Iriele BC; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Lulseged E; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Megarbane A; Institut Jérôme Lejeune, Paris, France.
Uwineza A; College of Medicine and Pharmacy, School of Medicine and Pharmacy, Center of Human Genetics, University of Rwanda, Kigali, Rwanda.
Oyenusi EE; Department of Pediatrics, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria.
Olopade OB; Department of Medicine, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria.
Fasanmade OA; Department of Medicine, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria.
Duenas-Roque MM; Servicio de Genética, Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Peru.
Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Tung JYL; Department of Paediatrics, Hong Kong Children's Hospital, Hong Kong, China.
Mok GTK; Department of Paediatrics, Hong Kong Children's Hospital, Hong Kong, China.
Fleischer N; FDNA Inc., Boston, Massachusetts.
Rwegerera GM; Department of Internal Medicine, University of Botswana, Gaborone, Botswana.
de Herreros MB; National Secretariat for the Rights of People with Disabilities (SENADIS), Fernando de la Mora, Paraguay.
Watts J; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Fieggen K; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Hussen DF; Department of Human Cytogenetics, The National Research Centre, Cairo, Egypt.
Ashaat NA; Faculty of Women for Science, Ain Shams University, Cairo, Egypt.
Ashaat EA; Clinical Genetics Department, The National Research Centre, Cairo, Egypt.
Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Badoe E; Department of Child Health, University of Ghana Medical School, Accra, Ghana.
Faradz SMH; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.
El Ruby MO; Clinical Genetics Department, The National Research Centre, Cairo, Egypt.
Shotelersuk V; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Wonkam A; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Ekure EN; Department of Pediatrics, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria.
Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Richieri-Costa A; Hospital for the Rehabilitation of Craniofacial Anomalies, São Paulo University, Bauru, Brazil.
Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Feb; Vol. 182 (2), pp. 303-313. Date of Electronic Publication: 2019 Dec 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am. J. Med. Genet. A Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism.
Autorzy :
Tung JY; Department of Paediatrics, Hong Kong Children's Hospital, Kowloon, Hong Kong.
Lai SHY; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, 102 Pokfulam Road, Pokfulam, Hong Kong.
Au SLK; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Room 314, 3/F, 30 Hospital Road, Sai Ying Pun, Hong Kong.
Yeung KS; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, 102 Pokfulam Road, Pokfulam, Hong Kong.
Kan ASY; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Room 314, 3/F, 30 Hospital Road, Sai Ying Pun, Hong Kong.
Loong F; Department of Pathology, Queen Mary Hospital, The University of Hong Kong, Pokfulam, Hong Kong.
DeLeón DD; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA.
Kalish JM; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA USA.; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA.
Ganguly A; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA USA.
Chung BHY; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, 102 Pokfulam Road, Pokfulam, Hong Kong.
Chan KYK; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Room 314, 3/F, 30 Hospital Road, Sai Ying Pun, Hong Kong.
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Źródło :
International journal of pediatric endocrinology [Int J Pediatr Endocrinol] 2020; Vol. 2020, pp. 13. Date of Electronic Publication: 2020 Jul 10.
Typ publikacji :
Case Reports
Journal Info :
Publisher: BioMed Central Country of Publication: England NLM ID: 101516111 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1687-9848 (Print) Linking ISSN: 16879848 NLM ISO Abbreviation: Int J Pediatr Endocrinol Subsets: PubMed not MEDLINE
Raport
Tytuł :
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Autorzy :
Mak CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Doherty D; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Lin AE; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA.
Vegas N; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Cho MT; GeneDx, Gaithersburg, MD, USA.
Viot G; Gynécologie Obstétrique, Hôpital Cochin, Hôpitaux Universitaires Paris Centre (HUPC), Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
Dimartino C; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Weisfeld-Adams JD; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA.
Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
Li C; McMaster University Medical Center, Hamilton, Ontario, Canada.
Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Troyer C; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA.
Kant SG; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.
Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
Ishak GE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Radiology, University of Washington, Seattle, WA, USA.
Leung G; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Barone Pritchard A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Yang S; GeneDx, Gaithersburg, MD, USA.
Bend EG; Greenwood Genetic Center, Greenwood, SC, USA.; PreventionGenetics, Marshfield, WI, USA.
Filippini F; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Roadhouse C; McMaster University Medical Center, Hamilton, Ontario, Canada.
Lebrun N; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.
Mehaffey MG; Department of Pediatrics, University of Washington, Seattle, WA, USA.
Martin PM; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
Apple B; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA.
Millan F; GeneDx, Gaithersburg, MD, USA.
Puk O; Praxis für Humangenetik Tübingen, Tübingen, Germany.
Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.
Henderson LB; GeneDx, Gaithersburg, MD, USA.
McGowan R; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
Wentzensen IM; GeneDx, Gaithersburg, MD, USA.
Pei S; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Zahir FR; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Yu M; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Gibson WT; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Seman A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Steeves M; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA.
Murrell JR; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Luettgen S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Francisco E; eviCore healthcare, Bluffton, SC, USA.
Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany.
Amlie-Wolf L; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Kaindl AM; Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Department of Pediatric Neurology and Center for Chronically Sick Children, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany.
Wilson WG; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA.
Halbach S; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Petach Tikva, Israel.
Lev-El N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Vissers LELM; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, HB Nijmegen, The Netherlands.
Radtke K; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA.
Chelly J; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France.
Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA.
Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA.
Reid RR; Department of Surgery, Section of Plastic Surgery, University of Chicago, Chicago, IL, USA.
Devriendt K; Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA.
McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Powis Z; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA.
Bienvenu T; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, 75014 Paris, France.
Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, 3052, Australia.
Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA.
Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Waggoner D; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Gripp KW; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, UK.
Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Lyonnet S; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Cormier-Daire V; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
Viskochil D; Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.
Hoffman TL; Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA.
Amiel J; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Gordon CT; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
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Corporate Authors :
University of Washington Center for Mendelian Genomics
Źródło :
Brain : a journal of neurology [Brain] 2020 Jan 01; Vol. 143 (1), pp. 55-68.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: In Process; Core Clinical (AIM); MEDLINE
Czasopismo naukowe

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