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Wyszukujesz frazę ""van der Sluijs PJ"" wg kryterium: Autor


Wyświetlanie 1-5 z 5
Tytuł :
Correction: Putting genome-wide sequencing in neonates into perspective.
Autorzy :
van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bökenkamp-Gramann R; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands.
Kaat LD; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.
van Doorn R; Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands.
van de Putte DF; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Ten Harkel ADJ; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands.
Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Ierland Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Koopmans M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Moghadasi S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Potjer TP; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Rij M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Rutten JW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Steggerda SJ; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands.
Suerink M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Tan RNGB; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands.
van der Tuin K; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Visser R; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands.
van der Werf-'t Lam AS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Williams M; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
Witlox R; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands.
Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. .
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Sep; Vol. 21 (9), pp. 2159-2164.
Typ publikacji :
Published Erratum
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: PubMed not MEDLINE; MEDLINE
Tytuł :
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Autorzy :
van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA.
Adachi-Fukuda M; Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.
Alanay Y; School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey.
AlKindy A; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
Baban A; Pediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.
Bayat A; Copenhagen University Hospital Hvidovre, Copenhagen, Denmark.
Beck-Wödl S; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Berry K; Department of Medical Genetics, Shodair Hospital, Helena, MT, USA.
Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bok LA; Department of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.
Brouwer AFJ; Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands.
van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Cheshire and Merseyside Regional Genetics Service, Liverpool Women's Hospital, Crown Street, Liverpool, United Kingdom.
Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Chu YWY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Dahan K; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
De Rademaeker M; Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium.
Destree A; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Dudding-Byth T; Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia.
Earl R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Elcioglu N; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.
Elias ER; Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.
Gener B; Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain.
Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Grasshoff U; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.
Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.
Kersseboom R; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Kilic E; Department of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey.
Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Lammers K; Department of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.
Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark.
Lederer D; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Lees M; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
López-González V; Sección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERERISCIII, Murcia, Spain.
Maas S; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Mancini GMS; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
McKee S; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland.
Mehta S; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom.
Metcalfe K; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Milunsky J; Center for Human Genetics Inc, Cambridge, MA, USA.
Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan.
Moeschler JB; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.
Netzer C; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Oehl-Jaschkowitz B; Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Olminkhof SNM; Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Pasquier L; CRMR Déficiences intellectuelles, Service de Génétique Médicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.
Pottinger C; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom.
Riehmer V; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Robertson SP; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Roifman M; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.
Rooryck C; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
Ropers FG; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Sagiroglu MS; Genpute Computation Technologies Company, Istanbul, Turkey.
Sallevelt SCEH; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Calvo AS; Servicio de Pediatría, Hospital Universitario Doctor Peset, Valencia, Spain.
Simsek-Kiper PO; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Soares G; Jacinto de Magalhães Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal.
Solaeche L; Departamento de neurometabólicas, Hospital Universitario Son Espases, Palma de Mallorca, Spain.
Sonmez FM; Karadeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey.
Splitt M; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom.
Steenbeek D; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Tanabe S; Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan.
Uctepe E; Enva Engineering, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Veenstra-Knol HE; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme. ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.
Vincent-Delorme C; Service de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France.
Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Wheeler P; Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA.
Wilson GN; KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA.
Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Kosho T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Eichler E; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Clayton-Smith J; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. .
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Sep; Vol. 21 (9), pp. 2160-2161.
Typ publikacji :
Published Erratum
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: PubMed not MEDLINE; MEDLINE
Tytuł :
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Autorzy :
van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA.
Adachi-Fukuda M; Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.
Alanay Y; School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey.
AlKindy A; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
Baban A; Pediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.
Bayat A; Copenhagen University Hospital Hvidovre, Copenhagen, Denmark.
Beck-Wödl S; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Berry K; Department of Medical Genetics, Shodair Hospital, Helena, MT, USA.
Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bok LA; Department of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.
Brouwer AFJ; Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands.
van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Cheshire and Merseyside Regional Genetics Service, Liverpool Women's Hospital, Crown Street, Liverpool, United Kingdom.
Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Chu YWY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Dahan K; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
De Rademaeker M; Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium.
Destree A; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Dudding-Byth T; Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia.
Earl R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Elcioglu N; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.
Elias ER; Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.
Gener B; Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain.
Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Grasshoff U; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.
Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.
Kersseboom R; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Kilic E; Department of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey.
Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Lammers K; Department of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.
Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark.
Lederer D; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Lees M; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
López-González V; Sección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain.
Maas S; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Mancini GMS; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
McKee S; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland.
Mehta S; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom.
Metcalfe K; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Milunsky J; Center for Human Genetics Inc, Cambridge, MA, USA.
Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan.
Moeschler JB; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.
Netzer C; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Oehl-Jaschkowitz B; Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Olminkhof SNM; Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Pasquier L; CRMR Déficiences intellectuelles, Service de Génétique Médicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.
Pottinger C; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom.
Riehmer V; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Robertson SP; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Roifman M; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.
Rooryck C; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
Ropers FG; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Sagiroglu MS; Genpute Computation Technologies Company, Istanbul, Turkey.
Sallevelt SCEH; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Sanchis Calvo A; Servicio de Pediatría, Hospital Universitario Doctor Peset, Valencia, Spain.
Simsek-Kiper PO; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Soares G; Jacinto de Magalhães Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal.
Solaeche L; Departamento de neurometabólicas, Hospital Universitario Son Espases, Palma de Mallorca, Spain.
Sonmez FM; Karadeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey.
Splitt M; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom.
Steenbeek D; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Tanabe S; Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan.
Uctepe E; Enva Engineering, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Veenstra-Knol HE; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme. ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.
Vincent-Delorme C; Service de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France.
Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Wheeler P; Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA.
Wilson GN; KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA.
Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Kosho T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Eichler E; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Clayton-Smith J; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. .
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jun; Vol. 21 (6), pp. 1295-1307. Date of Electronic Publication: 2018 Nov 08.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: MEDLINE
MeSH Terms :
DNA-Binding Proteins/*genetics
DNA-Binding Proteins/*metabolism
Transcription Factors/*genetics
Transcription Factors/*metabolism
Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Child ; Child, Preschool ; Chromosomal Proteins, Non-Histone/genetics ; Exome ; Face/abnormalities ; Female ; Genetic Association Studies/methods ; Genetic Variation/genetics ; Hand Deformities, Congenital/genetics ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/genetics ; Male ; Micrognathism/genetics ; Middle Aged ; Mutation ; Neck/abnormalities ; Penetrance
SCR Disease Name :
Coffin-Siris syndrome
Czasopismo naukowe
Tytuł :
Putting genome-wide sequencing in neonates into perspective.
Autorzy :
van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bökenkamp-Gramann R; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands.
Donker Kaat L; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.
van Doorn R; Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands.
van de Putte DF; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Ten Harkel ADJ; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands.
Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Ierland Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Koopmans M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Moghadasi S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Potjer TP; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Rij M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Rutten JW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Steggerda SJ; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands.
Suerink M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Tan RNGB; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands.
van der Tuin K; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Visser R; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands.
van der Werf-'t Lam AS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Williams M; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
Witlox R; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands.
Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. .
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 May; Vol. 21 (5), pp. 1074-1082. Date of Electronic Publication: 2018 Oct 05.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: MEDLINE
MeSH Terms :
Infant, Newborn, Diseases/*diagnosis
Infant, Newborn, Diseases/*genetics
Chromosome Mapping/methods ; Exome/genetics ; Female ; Genetic Testing/economics ; Genome-Wide Association Study/methods ; Humans ; Infant, Newborn ; Intensive Care, Neonatal ; Male ; Retrospective Studies ; Whole Exome Sequencing/economics ; Whole Exome Sequencing/methods
Czasopismo naukowe
Tytuł :
ARID1B -Related Disorder
Autorzy :
Vergano SA; Division of Medical Genetics and Metabolism, Children’s Hospital of the King’s Daughters, Norfolk, Virginia
van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Santen G; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Pokaż więcej
Źródło :
1993.
In: GeneReviews Adam MP; Ardinger HH; Pagon RA; Wallace SE; Bean LJH; Stephens K; Amemiya A
Typ publikacji :
Recenzja
Journal Info :
Publisher: University of Washington, Seattle Cited Medium: Internet
Recenzja
    Wyświetlanie 1-5 z 5

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