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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant.
Matoba, Kento; Chihara, Norio; Satake, Wataru; Tokuoka, Hideki; Otsuka, Yoshihisa; Ueda, Takehiro; Sekiguchi, Kenji; Itoh, Masayuki; Matsumoto, Riki.
Afiliación
  • Matoba K; Division of Neurology (K.M, N.C., H.T., Y.O., T.U., K.S., R.M.), Kobe University Graduate School of Medicine, Kobe; Department of Neurology (W.S.), Graduate School of Medicine, The University of Tokyo; and Department of Mental Retardation and Birth Defect Research (M.I.), National Institute of Neuro
  • Chihara N; Division of Neurology (K.M, N.C., H.T., Y.O., T.U., K.S., R.M.), Kobe University Graduate School of Medicine, Kobe; Department of Neurology (W.S.), Graduate School of Medicine, The University of Tokyo; and Department of Mental Retardation and Birth Defect Research (M.I.), National Institute of Neuro
  • Satake W; Division of Neurology (K.M, N.C., H.T., Y.O., T.U., K.S., R.M.), Kobe University Graduate School of Medicine, Kobe; Department of Neurology (W.S.), Graduate School of Medicine, The University of Tokyo; and Department of Mental Retardation and Birth Defect Research (M.I.), National Institute of Neuro
  • Tokuoka H; Division of Neurology (K.M, N.C., H.T., Y.O., T.U., K.S., R.M.), Kobe University Graduate School of Medicine, Kobe; Department of Neurology (W.S.), Graduate School of Medicine, The University of Tokyo; and Department of Mental Retardation and Birth Defect Research (M.I.), National Institute of Neuro
  • Otsuka Y; Division of Neurology (K.M, N.C., H.T., Y.O., T.U., K.S., R.M.), Kobe University Graduate School of Medicine, Kobe; Department of Neurology (W.S.), Graduate School of Medicine, The University of Tokyo; and Department of Mental Retardation and Birth Defect Research (M.I.), National Institute of Neuro
  • Ueda T; Division of Neurology (K.M, N.C., H.T., Y.O., T.U., K.S., R.M.), Kobe University Graduate School of Medicine, Kobe; Department of Neurology (W.S.), Graduate School of Medicine, The University of Tokyo; and Department of Mental Retardation and Birth Defect Research (M.I.), National Institute of Neuro
  • Sekiguchi K; Division of Neurology (K.M, N.C., H.T., Y.O., T.U., K.S., R.M.), Kobe University Graduate School of Medicine, Kobe; Department of Neurology (W.S.), Graduate School of Medicine, The University of Tokyo; and Department of Mental Retardation and Birth Defect Research (M.I.), National Institute of Neuro
  • Itoh M; Division of Neurology (K.M, N.C., H.T., Y.O., T.U., K.S., R.M.), Kobe University Graduate School of Medicine, Kobe; Department of Neurology (W.S.), Graduate School of Medicine, The University of Tokyo; and Department of Mental Retardation and Birth Defect Research (M.I.), National Institute of Neuro
  • Matsumoto R; Division of Neurology (K.M, N.C., H.T., Y.O., T.U., K.S., R.M.), Kobe University Graduate School of Medicine, Kobe; Department of Neurology (W.S.), Graduate School of Medicine, The University of Tokyo; and Department of Mental Retardation and Birth Defect Research (M.I.), National Institute of Neuro
Neurol Genet ; 8(5): e200031, 2022 Oct.
Article en En | MEDLINE | ID: mdl-36176335
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Neurol Genet Año: 2022 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Neurol Genet Año: 2022 Tipo del documento: Article Pais de publicación: Estados Unidos