第一单位：
Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.;Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.
作者：
Sarah A,Sandaradura [1]
;
Adam,Bournazos [2]
;
Amali,Mallawaarachchi [3]
;
Beryl B,Cummings [4]
;
Leigh B,Waddell [1]
;
Kristi J,Jones [1]
;
Christopher,Troedson [5]
;
Annapurna,Sudarsanam [5]
;
Benjamin M,Nash [6]
;
Gregory B,Peters [6]
;
Elizabeth M,Algar [7]
;
Daniel G,MacArthur [4]
;
Kathryn N,North [8]
;
Susan,Brammah [9]
;
Amanda,Charlton [10]
;
Nigel G,Laing [11]
;
Meredith J,Wilson [3]
;
Mark R,Davis [12]
;
Sandra T,Cooper [1]
作者单位：
Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.;Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.
[1]
Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
[2]
Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
[3]
Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.;Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
[4]
Department of Neurology, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
[5]
Sydney Genome Diagnostics, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
[6]
Centre for Cancer Research, Hudson Institute of Medical Research, Clayton, Victoria, Australia.;Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia.
[7]
Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.;Murdoch Children's Research Institute, Melbourne, Victoria, Australia.;Department of Paediatrics, Faculty of Medicine, University of Melbourne, Melbourne, Victoria, Australia.
[8]
Electron Microscope Unit, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
[9]
Department of Anatomical Pathology, Middlemore Hospital, Auckland, New Zealand.
[10]
Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Perth, Western Australia, Australia.;Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.
[11]
Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Perth, Western Australia, Australia.
[12]
DOI
10.1002/humu.23385
PMID
29266598
发布时间
2020-05-14
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