换一批
换一批
第一作者：
Eline A,Verberne
第一单位：
Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands.
作者：
Eline A,Verberne [1]
;
Shuxiang,Goh [2]
;
Jade,England [3]
;
Manon,van Ginkel [1]
;
Louise,Rafael-Croes [4]
;
Saskia,Maas [4]
;
Abeltje,Polstra [1]
;
Yuri A,Zarate [1]
;
Katherine A,Bosanko [5]
;
Kieran B,Pechter [5]
;
Emma,Bedoukian [6]
;
Kosuke,Izumi [7]
;
Ayeshah,Chaudhry [7]
;
Nathaniel H,Robin [8]
;
Megan,Boothe [9]
;
Natalie C,Lippa [10]
;
Vimla,Aggarwal [10]
;
Darryl C,De Vivo [11]
;
Anna,Lehman [11]
;
Causes,Study [12]
;
Sylvia,Stockler [13]
;
Ange-Line,Bruel [13]
;
Bertrand,Isidor [14]
;
Jennifer,Lemons [15]
;
David F,Rodriguez-Buritica [16]
;
Christopher M,Richmond [17]
;
Zornitza,Stark [17]
;
Pankaj B,Agrawal [18]
;
R Frank,Kooy [19]
;
Marije E C,Meuwissen [18]
;
David A,Koolen [20]
;
Rolf,Pfundt [21]
;
Agne,Lieden [22]
;
Britt-Marie,Anderlid [22]
;
Dagmar,Glatz [23]
;
Marcel M A M,Mannens [24]
;
Madhura,Bakshi [24]
;
Frédérick A,Mallette [25]
;
Mieke M,van Haelst [26]
;
Philippe M,Campeau [25]
作者单位：
Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands.
[1]
Department of Clin Genet, Liverpool Hospital, Sydney, Australia.
[2]
Department of Pediatrics, University of Montreal, Montreal, QC, Canada.
[3]
Department of Pediatrics, Dr. Horacio E. Oduber Hospital, Oranjestad, Aruba.
[4]
Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
[5]
Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[6]
Roberts Individualized Medical Genetics Center and the Division of Hum Genet, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[7]
Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada.
[8]
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
[9]
Department of Genetics, University of Alabama at Birmingham (UAB), Birmingham, AL, USA.
[10]
Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
[11]
Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
[12]
Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
[13]
Department of Pediatrics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
[14]
Équipe Génétique des Anomalies du Développement (GAD), CHU Dijon-Bourgogne, Dijon, France.
[15]
Service de génétique médicale, CHU de Nantes, Nantes, France.
[16]
Department of Pediatrics, UTHealth McGovern Medical School, Houston, TX, USA.
[17]
Victorian Clin Genet Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
[18]
School of Medicine, Griffith University, Gold Coast, QLD, Australia.
[19]
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
[20]
Divisions of Newborn Medicine and Genetics & Genomics, Department of Pediatrics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
[21]
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
[22]
Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
[23]
Department of Hum Genet, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
[24]
Department of Clin Genet, Karolinska University Hospital, Stockholm, Sweden.
[25]
Department of molecular medicine and surgery, Karolinska Institutet, Stockholm, Sweden.
[26]
Département de Médecine, Faculté de médecine, Université de Montréal, and Centre de Recherche de l'Hôpital Maisonneuve-Rosemont, Montreal, QC, Canada.
[27]
Department of Clin Genet, Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, The Netherlands. m.vanhaelst@amsterdamumc.nl.
[28]
Department of Pediatrics, University of Montreal, Montreal, QC, Canada. p.campeau@umontreal.ca.
[29]
DOI
10.1038/s41436-020-00992-z
PMID
33077894
发布时间
2022-12-07
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Genetics in medicine
Genetics in medicine
374-383页
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