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Clinical diversity caused by novel IGHMBP2 variants.
Yuan, Jun-Hui; Hashiguchi, Akihiro; Yoshimura, Akiko; Yaguchi, Hiroshi; Tsuzaki, Koji; Ikeda, Azusa; Wada-Isoe, Kenji; Ando, Masahiro; Nakamura, Tomonori; Higuchi, Yujiro; Hiramatsu, Yu; Okamoto, Yuji; Takashima, Hiroshi.
Afiliação
  • Yuan JH; Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima City, Japan.
  • Hashiguchi A; Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima City, Japan.
  • Yoshimura A; Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima City, Japan.
  • Yaguchi H; Department of Neurology, The Jikei University Kashiwa Hospital, Chiba, Japan.
  • Tsuzaki K; Department of Neurology, Kansai Electric Power Hospital, Osaka, Japan.
  • Ikeda A; Kanagawa Children's Medical Center, Yokohama, Japan.
  • Wada-Isoe K; Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
  • Ando M; Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima City, Japan.
  • Nakamura T; Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima City, Japan.
  • Higuchi Y; Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima City, Japan.
  • Hiramatsu Y; Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima City, Japan.
  • Okamoto Y; Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima City, Japan.
  • Takashima H; Department of Neurology and Geriatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima City, Japan.
J Hum Genet ; 62(6): 599-604, 2017 Jun.
Article em En | MEDLINE | ID: mdl-28202949

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome do Desconforto Respiratório do Recém-Nascido / Fatores de Transcrição / Atrofia Muscular Espinal / Doença de Charcot-Marie-Tooth / Doenças do Sistema Nervoso Periférico / Proteínas de Ligação a DNA Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome do Desconforto Respiratório do Recém-Nascido / Fatores de Transcrição / Atrofia Muscular Espinal / Doença de Charcot-Marie-Tooth / Doenças do Sistema Nervoso Periférico / Proteínas de Ligação a DNA Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Aged / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão