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Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.
Weisz-Hubshman, M; Meirson, H; Michaelson-Cohen, R; Beeri, R; Tzur, S; Bormans, C; Modai, S; Shomron, N; Shilon, Y; Banne, E; Orenstein, N; Konen, O; Marek-Yagel, D; Veber, A; Shalva, N; Imagawa, E; Matsumoto, N; Lev, D; Lerman Sagie, T; Raas-Rothschild, A; Ben-Zeev, B; Basel-Salmon, L; Behar, D M; Heimer, G.
Afiliação
  • Weisz-Hubshman M; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: hubshman@bcm.edu.
  • Meirson H; Pediatric Neurology Unit, Kaplan Medical Center Rehovot, Israel.
  • Michaelson-Cohen R; Shaare Zedek Medical Center, Hebrew University School of Medicine, Jerusalem, Israel.
  • Beeri R; Laboratory of Molecular Medicine, Rambam Health Care Campus, Haifa, Israel.
  • Tzur S; Laboratory of Molecular Medicine, Rambam Health Care Campus, Haifa, Israel; Genomic Research Department, Emedgene Technologies, Tel-Aviv, Israel.
  • Bormans C; Gene by Gene, Genomic Research Center, Houston, TX, USA.
  • Modai S; Variantyx, Inc, Framingham, MA, USA.
  • Shomron N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Variantyx, Inc, Framingham, MA, USA.
  • Shilon Y; Pediatric Neurology Unit, Kaplan Medical Center Rehovot, Israel.
  • Banne E; Institute of Medical Genetics, Kaplan Medical Center, Rehovot, Israel.
  • Orenstein N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Konen O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Radiology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Marek-Yagel D; Metabolic Diseases Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel.
  • Veber A; Metabolic Diseases Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel.
  • Shalva N; Metabolic Diseases Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel.
  • Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Lev D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.
  • Lerman Sagie T; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.
  • Raas-Rothschild A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Institute of Rare Diseases, The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.
  • Ben-Zeev B; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Pediatric Neurology Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel.
  • Basel-Salmon L; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Felsenstein Medical Research Center, Petach Tikva, Israel.
  • Behar DM; Gene by Gene, Genomic Research Center, Houston, TX, USA.
  • Heimer G; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Pediatric Neurology Unit, Safra Children Hospital, Sheba Medical Center, Tel Hashomer, Israel; The Pinchas Borenstein Talpiot Medical Leadership Program, The Chaim Sheba Medical Center, 52621, Ramat Gan, Israel.
Eur J Paediatr Neurol ; 23(3): 418-426, 2019 May.
Article em En | MEDLINE | ID: mdl-30853297
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Proteínas Supressoras de Tumor / Face / Oxidorredutase com Domínios WW / Deficiência Intelectual Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Eur J Paediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2019 Tipo de documento: Article País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Proteínas Supressoras de Tumor / Face / Oxidorredutase com Domínios WW / Deficiência Intelectual Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Eur J Paediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2019 Tipo de documento: Article País de publicação: Reino Unido