第一单位：
Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.;RG Presynaptic Plasticity, Leibniz Institute for Neurobiology, Magdeburg, Germany.
作者：
Franziska,Altmüller [1]
;
Christina,Lissewski [2]
;
Debora,Bertola [3]
;
Elisabetta,Flex [4]
;
Zornitza,Stark [5]
;
Stephanie,Spranger [6]
;
Gareth,Baynam [7]
;
Michelle,Buscarilli [8]
;
Sarah,Dyack [9]
;
Jane,Gillis [10]
;
Helger G,Yntema [11]
;
Francesca,Pantaleoni [12]
;
Rosa LE,van Loon [13]
;
Sara,MacKay [14]
;
Kym,Mina [15]
;
Ina,Schanze [2]
;
Tiong Yang,Tan [16]
;
Maie,Walsh [17]
;
Susan M,White [16]
;
Marena R,Niewisch [18]
;
Sixto,García-Miñaúr [19]
;
Diego,Plaza [20]
;
Mohammad Reza,Ahmadian [21]
;
Hélène,Cavé [22]
;
Marco,Tartaglia [12]
;
Martin,Zenker [2]
作者单位：
Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.;RG Presynaptic Plasticity, Leibniz Institute for Neurobiology, Magdeburg, Germany.
[1]
Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
[2]
Unidade de Genética do Instituto da Criança-Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.;Centro de Pesquisa sobre o Genoma Humano e Células-Tronco - Instituto de Biociências da Universidade de São Paulo, São Paulo, Brazil.
[3]
Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
[4]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
[5]
Praxis für Humangenetik, Bremen, Germany.
[6]
Genetic Services of Western Australia, WA Department of Health, Perth, Western Australia, Australia.;School of Paediatrics and Child Health, Perth, Western Australia, Australia.;Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia.;Office of Population Health Genomics, Public Health and Clinical Services Division, WA Department of Health, Perth, Western Australia, Australia.;Telethon Kids Institute, Perth, Western Australia, Australia.;Western Australian Register of Developmental Anomalies, WA Department of Health, Perth, Western Australia, Australia.;Spatial Sciences, Department of Science and Engineering, Curtin University, Perth, Western Australia, Australia.
[7]
Unidade de Genética do Instituto da Criança-Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
[8]
Department of Paediatrics and Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
[9]
Department of Pediatrics, University of British Columbia, Division of Biochemical Diseases, BC Children's Hospital, Vancouver, British Columbia, Canada.
[10]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
[11]
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
[12]
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
[13]
Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.
[14]
Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Perth, Western Australia, Australia.;School of Pathology and Laboratory Medicine, The University of Western Australia, Perth, Western Australia, Australia.
[15]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.;Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
[16]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
[17]
Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
[18]
Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Madrid, Spain.
[19]
Unidad de Hemato-Oncología Pediátrica, Hospital Universitario La Paz, Madrid, Spain.
[20]
Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.
[21]
INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, Paris, France.;Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Paris, France.
[22]
DOI
10.1038/ejhg.2017.65
PMID
28594414
发布时间
2018-11-13
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