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Wyszukujesz frazę ""Clinical dysmorphology [Clin Dysmorphol] NLMUID: 9207893"" wg kryterium: JN


Tytuł :
Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay.
Autorzy :
Maier F; Department of Clinical Genetics, MVZ Martinsried, Munich Ambulance for Clinical Genetics, Praxis Dr. Wahl, Praxis für Humangenetik Department of Neuropediatrics,I. Klinik für Kinder und Jugendliche, Universitätsklinikum Augsburg, Augsburg Department for Imprinting Disorders, Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Frühwald M
Heinrich U
Schimmel M
Wahl D
Eggermann T
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Jun 14. Date of Electronic Publication: 2021 Jun 14.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
CK syndrome: a rare cause of developmental delay in a young boy.
Autorzy :
Garg M; Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, India.
Kulkarni SD
Sayed R
Hegde AU
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Jun 03. Date of Electronic Publication: 2021 Jun 03.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Rare case of dual diagnosis in consanguineous family: a case report.
Autorzy :
Agrawal N; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Mandal K
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 May 19. Date of Electronic Publication: 2021 May 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant.
Autorzy :
Sabir AH; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London and Birmingham Women's and Children's Hospital NHS Trust & Birmingham Health Partners, Birmingham College of Medical and Dental Sciences, University of Birmingham, Birmingham Department of Paediatric Neurology, Guy's and St Thomas' NHS Foundation Trust Department of Respiratory Medicine, Great Ormond Street Hospital Department of Paediatrics, Medway Maritime Hospital, Kent Department of Radiology, Guy's and St Thomas' NHS Foundation Trust Department of Endocrinology, Guy's and St Thomas' NHS Foundation Trust Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
Sheikh J
Gowda V
Wallis C
Singham S
Durve D
Cocca A
Holder-Espinasse M
Irving M
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 May 19. Date of Electronic Publication: 2021 May 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A proximal 300kb deletion further defining critical regions in 4q25 syndrome.
Autorzy :
Hegarty M; Department of Genetic Medicine, Belfast HSC Trust, UK Patrick G Johnston Centre for Cancer Research and Cell Biology, Queens University of Belfast, 97 Lisburn Road, Belfast BT9 7AE, UK.
Morrison PJ
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 May 19. Date of Electronic Publication: 2021 May 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type.
Autorzy :
Kalaoglu EE; Faculty of Dentistry, Department of Pediatric Dentistry, Biruni University, Istanbul Department of Medical Genetics, Erzurum Region Research and Training Hospital, Erzurum Department of Medical Genetics, School of Medicine Faculty of Dentistry, Department of Pediatric Dentistry, Marmara University, Istanbul, Turkey.
Turkyılmaz A
Geckinli BB
Arslan Ates E
Mentes A
Arman A
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Apr 12. Date of Electronic Publication: 2021 Apr 12.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries.
Autorzy :
Pulipaka S; Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Kaur A
Bhatia P
Panigrahi I
Kaur A
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Apr 12. Date of Electronic Publication: 2021 Apr 12.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.
Autorzy :
Dawson AJ; Genomics, Shared Health Manitoba, Winnipeg.; Department of Biochemistry and Medical Genetics, Program of Genetics and Metabolism, University of Manitoba, Winnipeg, Manitoba, Canada.
Hovanes K; Invitae, Irvine, California, USA.
Liu J; Genomics, Shared Health Manitoba, Winnipeg.; Department of Biochemistry and Medical Genetics, Program of Genetics and Metabolism, University of Manitoba, Winnipeg, Manitoba, Canada.
Marles S; Department of Biochemistry and Medical Genetics, Program of Genetics and Metabolism, University of Manitoba, Winnipeg, Manitoba, Canada.
Greenberg C; Department of Biochemistry and Medical Genetics, Program of Genetics and Metabolism, University of Manitoba, Winnipeg, Manitoba, Canada.
Mhanni A; Department of Biochemistry and Medical Genetics, Program of Genetics and Metabolism, University of Manitoba, Winnipeg, Manitoba, Canada.
Chudley A; Department of Biochemistry and Medical Genetics, Program of Genetics and Metabolism, University of Manitoba, Winnipeg, Manitoba, Canada.
Frosk P; Department of Biochemistry and Medical Genetics, Program of Genetics and Metabolism, University of Manitoba, Winnipeg, Manitoba, Canada.
Sahoo T; Invitae, Irvine, California, USA.
Schanze D; Institute of Human Genetics, University Hospital Magdeburg Leipziger Str. 44 39120 Magdeburg Germany.
Zenker M; Institute of Human Genetics, University Hospital Magdeburg Leipziger Str. 44 39120 Magdeburg Germany.
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Apr 01; Vol. 30 (2), pp. 83-88.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?
Autorzy :
Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Disease.
Pokora P; Department of Paediatric, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute.
Młynek M; Department of Medical Genetics, The Children's Memorial Health Institute.
Smyk M; Department of Medical Genetics, Institute of Mother and Child.
Ziemkiewicz K; Department of Medical Genetics, Institute of Mother and Child.
Różdżyńska-Świątkowska A; Anthropology Laboratory, The Children's Memorial Health Institute, Warsaw, Poland.
Tylki-Szymańska A; Department of Paediatric, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute.
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Apr 01; Vol. 30 (2), pp. 76-82.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.
Autorzy :
Gowda M; Department of Obstetrics and Gynecology, Jawaharlal Institute of Postgraduate Medical Education and Research, Dhanvantri nagar, Gorimedu, Pondicherry, India.
Mohan S
Ramesh D
Chinta N
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Apr 01; Vol. 30 (2), pp. 100-103.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy.
Autorzy :
Sandal S; Institute of Medical Genetics and Genomics.
Razdan TB; Department of Ophthalmology, Sir Ganga Ram Hospital, New Delhi.
Verma J; Institute of Medical Genetics and Genomics.
Dubey S; Institute of Medical Genetics and Genomics.
Ghosh A; Department of Pediatrics, Institute of Child Health, Kolkata, India.
Saxena R; Institute of Medical Genetics and Genomics.
Puri RD; Institute of Medical Genetics and Genomics.
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Apr 01; Vol. 30 (2), pp. 110-114.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.
Autorzy :
Peleg A; The Genetics Institute, Lady Davis Carmel Medical Center.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology.
Kurolap A; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology.; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
Sagi-Dain L; The Genetics Institute, Lady Davis Carmel Medical Center.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology.
Larom-Khan G; The Genetics Institute, Lady Davis Carmel Medical Center.
Adir V; The Genetics Institute, Lady Davis Carmel Medical Center.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology.
Mory A; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology.; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
Paperna T; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
Shuldiner AR; Regeneron Genetics Center, Tarrytown, New York, USA.
Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, New York, USA.
Adir N; The Schulich Faculty of Chemistry, Technion-Israel Institute of Technology, Haifa, Israel.
Baris Feldman H; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology.; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
Wollstein R; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology.; New York University School of Medicine, New York, USA.
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Apr 01; Vol. 30 (2), pp. 71-75.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features.
Autorzy :
Traub ES; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Sheppard SE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia.
Dori Y; Division of Cardiology, The Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania.
Burns KD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia.
Ware SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.; Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana.
Landis BJ; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.; Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, Indiana.
Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Apr 01; Vol. 30 (2), pp. 89-92.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
X-linked BCOR-related syndrome in two male siblings.
Autorzy :
Archer NE; Department of Paediatrics, London Health Sciences Centre and Western University, London.
Mercer L; Thunder Bay Regional Health Sciences Centre Genetics Program, Thunder Bay Regional Health Sciences Centre, Thunder Bay, Ontario.
Goobie S; Maritime Medical Genetic Service, Department of Pediatrics, Izaak Walton Killam (IWK) Health Centre, Halifax, Nova Scotia.
Velsher L; Division of Clinical Genetics, North York General Hospital, North York.
Colaiacovo S; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London.
Prasad C; Department of Paediatrics, London Health Sciences Centre and Western University, London.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London.; Children's Health Research Institute, London, Ontario, Canada.
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Apr 01; Vol. 30 (2), pp. 104-109.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing.
Autorzy :
Cogulu O; Department of Pediatrics.
Mojarrab N; Department of Pedodontics, Faculty of Dentistry.
Simsir OS; Department of Pediatrics.
Durmaz A; Medical Genetics, Ege University, Medical Faculty Hospital, Izmir, Turkey.
Aykut A; Medical Genetics, Ege University, Medical Faculty Hospital, Izmir, Turkey.
Cogulu D; Department of Pedodontics, Faculty of Dentistry.
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Apr 01; Vol. 30 (2), pp. 93-99.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant.
Autorzy :
Sabir AH; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust & Birmingham Health Partners.; Department of Medicine, University of Birmingham, Birmingham.
Singh A; Department of Medicine, University of Birmingham, Birmingham.
Elley G; Foundation of Doctor, Department of Medicine, Ashford and St Peter's NHS Trust, Ashford.
Wassemer E; Department of Paediatric Neurology.
Foster K; Department of Paediatric Radiology, Birmingham Women's and Children's Hospital NHS Trust & Birmingham Health Partners, Birmingham.
Sloman M; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
Lim D; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust & Birmingham Health Partners.; Department of Medicine, University of Birmingham, Birmingham.
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Apr 01; Vol. 30 (2), pp. 115-119.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.
Autorzy :
Ohashi I; Division of Medical Genetics Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama Genetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare, Kurashiki, Japan.
Kuroda Y
Enomoto Y
Murakami H
Masuno M
Kurosawa K
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Mar 19. Date of Electronic Publication: 2021 Mar 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy.
Autorzy :
Cratsenberg DM; Genetic Medicine Division, Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center Pediatric Radiology, Children's Specialty Physicians, Children's Hospital & Medical Center, Omaha, NE, USA.
Winningham PJ
Starr LJ
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Mar 19. Date of Electronic Publication: 2021 Mar 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).
Autorzy :
Sabir AH; Clinical Genetics Registrar, Guy's and St Thomas' NHS Foundation Trust (London), Birmingham Women's and Children's Hospital NHS Trust & Birmingham Health Partners Medical Student, University of Birmingham, Birmingham Trainee Clinical Bioinformatician, Guy's and St Thomas' NHS Foundation Trust, London East England GLH Bioinformatics Lead, Cambridge University Hospitals NHS FT, Addenbrooke's Hospital, Cambridge Consultant Paediatric Endocrinologist Consultant Clinical Geneticist, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Singhal J
Man J
Mensah NE
Ahn JW
Cheung MS
Irving M
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Feb 17. Date of Electronic Publication: 2021 Feb 17.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome.
Autorzy :
Aerden M; Center for Human Genetics, Department for Human Genetics, University Hospitals Leuven - Katholieke Universiteit Leuven, Leuven Department of Paediatrics, AZ Groeninge, Kortrijk Department of Paediatrics, University Hospitals Leuven Department of Development and Regeneration, Katholieke Universiteit Leuven, Leuven, Belgium.
Vallaeys L
Holvoet M
De Waele L
Van Den Bogaert K
Devriendt K
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Feb 17. Date of Electronic Publication: 2021 Feb 17.
Typ publikacji :
Journal Article
Czasopismo naukowe

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