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De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Guella, Ilaria; McKenzie, Marna B; Evans, Daniel M; Buerki, Sarah E; Toyota, Eric B; Van Allen, Margot I; Suri, Mohnish; Elmslie, Frances; Simon, Marleen E H; van Gassen, Koen L I; Héron, Delphine; Keren, Boris; Nava, Caroline; Connolly, Mary B; Demos, Michelle; Farrer, Matthew J.
Afiliação
  • Guella I; Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC V5R 6H8, Canada.
  • McKenzie MB; Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC V5R 6H8, Canada.
  • Evans DM; Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC V5R 6H8, Canada.
  • Buerki SE; Department of Neuropediatrics, Development, and Rehabilitation, University Children's Hospital, Inselspital, 3010 Berne, Switzerland.
  • Toyota EB; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC V6H 3V4, Canada.
  • Van Allen MI; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
  • Suri M; Regional Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, UK.
  • Elmslie F; South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.
  • Simon MEH; Department of Medical Genetics, University Medical Centre Utrecht, 3508 AB Utrecht, the Netherlands.
  • van Gassen KLI; Department of Medical Genetics, University Medical Centre Utrecht, 3508 AB Utrecht, the Netherlands.
  • Héron D; Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris 75651, France.
  • Keren B; Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris 75651, France.
  • Nava C; Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris 75651, France.
  • Connolly MB; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC V6H 3V4, Canada.
  • Demos M; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC V6H 3V4, Canada. Electronic address: mdemos@cw.bc.ca.
  • Farrer MJ; Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC V5R 6H8, Canada. Electronic address: mfarrer@can.ubc.ca.
Am J Hum Genet ; 101(2): 300-310, 2017 Aug 03.
Article em En | MEDLINE | ID: mdl-28777935
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Predisposição Genética para Doença / Proteínas 14-3-3 / Proteínas de Transporte de Glutamato da Membrana Plasmática Limite: Adolescent / Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Canadá País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Predisposição Genética para Doença / Proteínas 14-3-3 / Proteínas de Transporte de Glutamato da Membrana Plasmática Limite: Adolescent / Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Canadá País de publicação: Estados Unidos