换一批How genetically heterogeneous is Kabuki syndrome: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
第一作者：
Banka,S.
作者：
Banka,S. [1]
;
Veeramachaneni,R. [2]
;
Reardon,W. [3]
;
Howard,E. [4]
;
Bunstone,S. [5]
;
Ragge,N. [6]
;
Parker,M.J. [7]
;
Crow,Y.J. [8]
;
Kerr,B. [9]
;
Kingston,H. [10]
;
Metcalfe,K. [11]
;
Chandler,K. [12]
;
Magee,A. [13]
;
Stewart,F. [14]
;
McConnell,V.P.M. [15]
;
Donnelly,D.E. [16]
;
Berland,S. [17]
;
Houge,G. [18]
;
Morton,J.E. [19]
;
Oley,C. [20]
;
Revencu,N. [21]
;
Park,S.-M. [22]
;
Davies,S.J. [23]
;
Fry,A.E. ;
Lynch,S.A. ;
Gill,H. ;
Schweiger,S. ;
Lam,W.W.K. ;
Tolmie,J. ;
Mohammed,S.N. ;
Hobson,E. ;
Smith,A. ;
Blyth,M. ;
Bennett,C. ;
Vasudevan,P.C. ;
García-Mi?aúr,S. ;
Henderson,A. ;
Goodship,J. ;
Wright,M.J. ;
Fisher,R. ;
Gibbons,R. ;
Price,S.M. ;
DeSilva,D.C. ;
Temple,I.K. ;
Collins,A.L. ;
Lachlan,K. ;
Elmslie,F. ;
McEntagart,M. ;
Castle,B. ;
Clayton-Smith,J. ;
Black,G.C. ;
Donnai,D.
作者单位：
Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario la Paz, Madrid, Spain
[1]
South East of Scotland Clinical Genetic Service, Molecular Medicine Centre, Western General
[2]
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
[3]
Department of Medical Genetics, St George's Hospital, London, United Kingdom
[4]
Department of Clinical Genetics, Leicester Royal Infirmary, Leicester, United Kingdom
[5]
Department of Genetic Medicine, University of Manchester, St Mary's Hospital, Oxford Road
[6]
Northern Genetics Service, Teesside Genetics Unit, James Cook University Hospital, Middlesbrough
[7]
Department of Clinical Genetics, East Anglian Medical Genetics Service, Addenbrooke's Hospital
[8]
Yorkshire Regional Genetic Service, Leeds, United Kingdom
[9]
Center for Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain
[10]
Division of Medical Sciences, University of Dundee, Dundee, United Kingdom
[11]
Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, United Kingdom
[12]
All Wales Medical Genetics Service, Institute of Medical Genetics, University Hospital of Wales
[13]
Department of Clinical Genetics, Churchill Hospital, Oxford, United Kingdom
[14]
National Centre for Medical Genetics, Our Lady's Children's Hospital, Dublin, Ireland
[15]
University Hospital Southampton NHS Trust, Faculty of Medicine, University of Southampton
[16]
Northern Genetics Service, Newcastle Upon Tyne Hospitals, Newcastle upon Tyne, United Kingdom
[17]
Clinical Genetics Department, Royal Devon and Exeter Hospital, Exeter, United Kingdom
[18]
Clinical Genetics Department, Yorkhill Hospitals, Glasgow, United Kingdom
[19]
Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka
[20]
Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, United Kingdom
[21]
Department of Clinical Genetics, Sheffield Children's NHS Foundation Trust, Sheffield, United
[22]
Clinical Genetics, Guy's Hospital, London, United Kingdom
[23]
发布时间
2013-11-20
- 浏览3
European journal of human genetics
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