Your browser doesn't support javascript.
loading
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.
Martin, Sonja; Chamberlin, Adam; Shinde, Deepali N; Hempel, Maja; Strom, Tim M; Schreiber, Allison; Johannsen, Jessika; Ousager, Lilian Bomme; Larsen, Martin J; Hansen, Lars Kjaersgaard; Fatemi, Ali; Cohen, Julie S; Lemke, Johannes; Sørensen, Kristina P; Helbig, Katherine L; Lessel, Davor; Abou Jamra, Rami.
Afiliação
  • Martin S; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany.
  • Chamberlin A; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92565, USA.
  • Shinde DN; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92565, USA.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Schreiber A; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
  • Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Ousager LB; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.
  • Larsen MJ; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.
  • Hansen LK; Department of Paediatrics, Odense University Hospital, 5000 Odense, Denmark.
  • Fatemi A; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Departments of Neurology and Pediatrics, Johns Hopkins Medical Institutions, Baltimore, MD 21205, USA.
  • Cohen JS; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
  • Lemke J; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany.
  • Sørensen KP; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.
  • Helbig KL; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92565, USA.
  • Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Abou Jamra R; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany. Electronic address: rami.aboujamra@medizin.uni-leipzig.de.
Am J Hum Genet ; 101(6): 1013-1020, 2017 Dec 07.
Article em En | MEDLINE | ID: mdl-29220673
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Receptores de AMPA / Transtornos Neurológicos da Marcha / Deficiência Intelectual / Transtornos dos Movimentos Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Receptores de AMPA / Transtornos Neurológicos da Marcha / Deficiência Intelectual / Transtornos dos Movimentos Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha