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Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.
Tsuchida, N; Nakashima, M; Miyauchi, A; Yoshitomi, S; Kimizu, T; Ganesan, V; Teik, K W; Ch'ng, G-S; Kato, M; Mizuguchi, T; Takata, A; Miyatake, S; Miyake, N; Osaka, H; Yamagata, T; Nakajima, H; Saitsu, H; Matsumoto, N.
Afiliação
  • Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Nakashima M; Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyauchi A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Yoshitomi S; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
  • Kimizu T; Department of Pediatrics, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
  • Ganesan V; Department of Pediatrics, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.
  • Teik KW; Department of Pediatrics, Penang Hospital, Pulau Pinang, Malaysia.
  • Ch'ng GS; Genetic Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Kato M; Genetic Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Mizuguchi T; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
  • Takata A; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Osaka H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Yamagata T; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
  • Nakajima H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Saitsu H; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
  • Matsumoto N; Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Clin Genet ; 93(2): 266-274, 2018 02.
Article em En | MEDLINE | ID: mdl-28556953
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Epilepsia Generalizada / Deficiência Intelectual / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Epilepsia Generalizada / Deficiência Intelectual / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão