首页> Journal of medical genetics> The clinical significance of small copy number variants in neurodevelopmental disorders.

The clinical significance of small copy number variants in neurodevelopmental disorders.

导出 OA

翻译打印收藏纠错

第一作者： Reza,Asadollahi

第一单位： Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.

作者： Reza,Asadollahi ^[1] ; Beatrice,Oneda ^[1] ; Pascal,Joset ^[1] ; Silvia,Azzarello-Burri ^[1] ; Deborah,Bartholdi ^[1] ; Katharina,Steindl ^[1] ; Marie,Vincent ^[1] ; Joana,Cobilanschi ^[1] ; Heinrich,Sticht ^[2] ; Rosa,Baldinger ^[1] ; Regina,Reissmann ^[1] ; Irene,Sudholt ^[1] ; Christian T,Thiel ^[3] ; Arif B,Ekici ^[3] ; André,Reis ^[3] ; Emilia K,Bijlsma ^[4] ; Joris,Andrieux ^[5] ; Anne,Dieux ^[6] ; David,FitzPatrick ^[7] ; Susanne,Ritter ^[8] ; Alessandra,Baumer ^[1] ; Beatrice,Latal ^[8] ; Barbara,Plecko ^[9] ; Oskar G,Jenni ^[8] ; Anita,Rauch ^[1]

作者单位： Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland. ^[1] Institute of Biochemistry, University of Erlangen-Nuremberg, Erlangen, Germany. ^[2] Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany. ^[3] Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands. ^[4] Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU de Lille, Lille, France. ^[5] Clinique de Génétique Guy Fontaine, Hôpital Jeanne de Flandre, CHRU de Lille, Lille, France. ^[6] MRC Human Genetics Unit, MRC Institute for Genetic and Molecular Medicine, University of Edinburgh, Edinburgh, UK. ^[7] Child Development Center, University Children's Hospital Zurich, Zurich, Switzerland. ^[8] Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland. ^[9]

关键词 Clinical Genetics Copy-Number Developmental Diagnostics Genome-Wide