换一批Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy
第一作者：
Schmidts,M.
作者：
Schmidts,M. [1]
;
Vodopiutz,J. [2]
;
Christou-Savina,S. [3]
;
Cortés,C.R. [4]
;
McInerney-Leo,A.M. [5]
;
Emes,R.D. [6]
;
Arts,H.H. [7]
;
Tüysüz,B. [8]
;
D'Silva,J. [9]
;
Leo,P.J. [10]
;
Giles,T.C. [11]
;
Oud,M.M. [12]
;
Harris,J.A. [13]
;
Koopmans,M. [14]
;
Marshall,M. [15]
;
El?ioglu,N. [16]
;
Kuechler,A. [17]
;
Bockenhauer,D. [18]
;
Moore,A.T. [19]
;
Wilson,L.C. [20]
;
Janecke,A.R. [21]
;
Hurles,M.E. ;
Emmet,W. ;
Gardiner,B. ;
Streubel,B. ;
Dopita,B. ;
Zankl,A. ;
Kayserili,H. ;
Scambler,P.J. ;
Brown,M.A. ;
Beales,P.L. ;
Wicking,C. ;
Duncan,E.L. ;
Mitchison,H.M.
作者单位：
University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra
[1]
Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical
[2]
Department of Pediatrics, Marmara University Hospital, Istanbul 34716, Turkey
[3]
Institute for Molecular Bioscience, University of Queensland, St Lucia, QLD 4072, Australia
[4]
Moorfields Eye Hospital and UCL Institute of Ophthalmology, London EC1V 2PH, United Kingdom
[5]
Advanced Data Analysis Centre, University of Nottingham, Leicestershire LE12 5RD, United Kingdom
[6]
Department of Pediatrics I, and Division of Human Genetics, Innsbruck Medical University, 6020
[7]
Department of Genetics, Environment and Evolution, University College London, London WC1E 6BT
[8]
Department of Human Genetics, Radboud University Medical Centre, Netherlands, Nijmegen Centre for
[9]
Great Ormond Street Hospital and Nephro-Urology Unit, Institute of Child Health, University College
[10]
University of Queensland, UQ Centre for Clinical Research, Herston, QLD 4029, Australia
[11]
Institut für Humangenetik, Universit?tsklinikum Essen, Universit?t Duisburg-Essen, 45122 Essen
[12]
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria
[13]
School of Veterinary Medicine and Science, Tunisia, Advanced Data Analysis Centre, University of
[14]
Istanbul Medical Faculty, Medical Genetics Department, Istanbul University, 34390 Istanbul, Turkey
[15]
Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, United Kingdom
[16]
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1RQ, United
[17]
Department of Obstetrics and Gynecology, Medical University of Vienna, 1090 Vienna, Austria
[18]
Department of Pediatrics, Division of Pediatric Genetics, Istanbul University, 34303 Istanbul
[19]
Molecular Medicine Unit and Birth Defect Research Centre, Institute of Child Health, University
[20]
Department of Genetics, Canberra Hospital, Woden, ACT 2606, Australia
[21]
发布时间
2014-02-27
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The American Journal of Human Genetics
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