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Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome.
Thimm, Andreas; Rahal, Ahmad; Schoen, Ulrike; Abicht, Angela; Klebe, Stephan; Kleinschnitz, Christoph; Hagenacker, Tim; Stettner, Mark.
Afiliación
  • Thimm A; Department of Neurology, University Hospital Essen, Essen, Germany.
  • Rahal A; Department of Ophthalmology, University Hospital Essen, Essen, Germany.
  • Schoen U; Medical Genetics Center, Munich, Germany.
  • Abicht A; Medical Genetics Center, Munich, Germany.
  • Klebe S; Department of Neurology, University Hospital Essen, Essen, Germany.
  • Kleinschnitz C; Department of Neurology, University Hospital Essen, Essen, Germany.
  • Hagenacker T; Department of Neurology, University Hospital Essen, Essen, Germany.
  • Stettner M; Department of Neurology, University Hospital Essen, Essen, Germany.
J Peripher Nerv Syst ; 25(2): 112-116, 2020 06.
Article en En | MEDLINE | ID: mdl-32077159
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Polineuropatías / Ataxia / Catarata / Retinitis Pigmentosa / Monoacilglicerol Lipasas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Polineuropatías / Ataxia / Catarata / Retinitis Pigmentosa / Monoacilglicerol Lipasas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Alemania