换一批
换一批Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
作者：
Carvill,G.L. [1]
;
Heavin,S.B. [2]
;
Yendle,S.C. [3]
;
McMahon,J.M. [4]
;
O'Roak,B.J. [5]
;
Cook,J. [6]
;
Khan,A. [7]
;
Dorschner,M.O. [8]
;
Weaver,M. [9]
;
Calvert,S. [10]
;
Malone,S. [11]
;
Wallace,G. [12]
;
Stanley,T. [13]
;
Bye,A.M.E. [14]
;
Bleasel,A. [15]
;
Howell,K.B. [16]
;
Kivity,S. [17]
;
Mackay,M.T. [18]
;
Rodriguez-Casero,V. [19]
;
Webster,R. [20]
;
Korczyn,A. [21]
;
Afawi,Z. ;
Zelnick,N. ;
Lerman-Sagie,T. ;
Lev,D. ;
M?ller,R.S. ;
Gill,D. ;
Andrade,D.M. ;
Freeman,J.L. ;
Sadleir,L.G. ;
Shendure,J. ;
Berkovic,S.F. ;
Scheffer,I.E. ;
Mefford,H.C.
作者单位：
Department of Medicine, Epilepsy Research Centre, University of Melbourne, Melbourne, VIC, Australia
[1]
Department of Genome Sciences, University of Washington, Seattle, WA, United States
[2]
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, United
[3]
Tel-Aviv University Medical School, Tel-Aviv, Israel
[4]
Danish Epilepsy Centre, Dianalund, Denmark
[5]
Epilepsy Unit, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel
[6]
Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA
[7]
Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia, Critical Care and
[8]
Neurosciences Children's Health Queensland, Royal and Mater Children's Hospitals, Brisbane, QLD
[9]
Department of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington
[10]
Department of Medicine, Epilepsy Research Centre, University of Melbourne, Melbourne, VIC
[11]
Paediatric Neurology, Monash Medical Centre, Melbourne, VIC, Australia
[12]
TY Nelson Department of Neurology, Children's Hospital at Westmead, Sydney, NSW, Australia
[13]
Department of Pediatrics, Carmel Medical Center, Technion Faculty of Medicine, Haifa, Israel
[14]
Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel
[15]
Department of Neurology, Westmead Hospital, University of Sydney, Sydney, NSW, Australia
[16]
Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia
[17]
Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel, Danish Epilepsy Centre
[18]
Department of Neurology, Tel-Aviv University, Tel-Aviv, Israel
[19]
Krembil Neurosciences Program, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada
[20]
Department of Paediatric Neurology, University of New South Wales, Sydney Children's Hospital
[21]
发布时间
2013-11-20
- 浏览6
Nature Genetics
Nature Genetics
825-830页
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