换一批ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
第一作者：
Hirata,H.
作者：
Hirata,H. [1]
;
Nanda,I. [2]
;
VanRiesen,A. [3]
;
McMichael,G. [4]
;
Hu,H. [5]
;
Hambrock,M. [6]
;
Papon,M.-A. [7]
;
Fischer,U. [8]
;
Marouillat,S. [9]
;
Ding,C. [10]
;
Alirol,S. [11]
;
Bienek,M. [12]
;
Preisler-Adams,S. [13]
;
Grimme,A. [14]
;
Seelow,D. [15]
;
Webster,R. [16]
;
Haan,E. [17]
;
MacLennan,A. [18]
;
Stenzel,W. [19]
;
Yap,T.Y. [20]
;
Gardner,A. [21]
;
Nguyen,L.S. [22]
;
Shaw,M. ;
Lebrun,N. ;
Haas,S.A. ;
Kress,W. ;
Haaf,T. ;
Schellenberger,E. ;
Chelly,J. ;
Viot,G. ;
Shaffer,L.G. ;
Rosenfeld,J.A. ;
Kramer,N. ;
Falk,R. ;
El-Khechen,D. ;
Escobar,L.F. ;
Hennekam,R. ;
Wieacker,P. ;
Hübner,C. ;
Ropers,H.-H. ;
Gecz,J. ;
Schuelke,M. ;
Laumonnier,F. ;
Kalscheuer,V.M.
作者单位：
Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA 99207, United States, Paw Print
[1]
Center for Frontier Research, National Institute of Genetics, Japan Science and Technology Agency
[2]
School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA 5000, Australia
[3]
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin
[4]
Department of Pediatrics and Clinical Genetics, Academic Medical Center, 1105 AZ Amsterdam
[5]
Medical Genetics Institute, Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical
[6]
University Paris Descartes, 75006 Paris, France, Institut National de la Santé et de la Recherche M
[7]
South Australian Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia, School of
[8]
Neurogenetics, SA Pathology, Adelaide, SA 5000, Australia
[9]
Department of Computational Biology, Max Planck Institute for Molecular Genetics, 14195 Berlin
[10]
Institute of Neuropathology, Charité Universit?tsmedizin Berlin, 13353 Berlin, Germany
[11]
Institute of Human Genetics, Westf?lische Wilhelms Universit?t Münster, 48149 Münster, Germany
[12]
Université Fran?ois-Rabelais, 37032 Tours, France, Institut National de la Santé et de la Recherche
[13]
Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA 99207, United States
[14]
Robinson Institute, University of Adelaide, Adelaide, SA 5000, Australia
[15]
Department of Gynecology-Obstetrics, Cochin Hospital, Assistance Publique - H?pitaux de Paris
[16]
Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, NSW 2145
[17]
Medical Genetics and Neurodevelopmental Center, Peyton Manning St. Vincent Children's Hospital
[18]
Kinderklinik Am M?nchberg, Kinderfachabteilung der Missions?rztlichen Klinik Würzburg, 97067 W
[19]
Institute of Human Genetics, University of Würzburg, Biocenter, 97047 Würzburg, Germany
[20]
Department of Neuropediatrics, NeuroCure Clinical Research Center, Charité Universit?tsmedizin
[21]
Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, United States
[22]
发布时间
2013-11-20
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The American Journal of Human Genetics
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