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Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.
Krenn, M; Tomschik, M; Rath, J; Cetin, H; Grisold, A; Zulehner, G; Milenkovic, I; Stogmann, E; Zimprich, A; Strom, T M; Meitinger, T; Wagner, M; Zimprich, F.
Afiliación
  • Krenn M; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Tomschik M; Institute of Human Genetics, Technical University Munich, Munich, Germany.
  • Rath J; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Cetin H; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Grisold A; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Zulehner G; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Milenkovic I; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Stogmann E; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Zimprich A; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Strom TM; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Meitinger T; Institute of Human Genetics, Technical University Munich, Munich, Germany.
  • Wagner M; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Zimprich F; Institute of Human Genetics, Technical University Munich, Munich, Germany.
Eur J Neurol ; 27(1): 51-61, 2020 01.
Article en En | MEDLINE | ID: mdl-31407473
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Exoma / Genotipo / Enfermedades Neuromusculares Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Eur J Neurol Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Austria
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Exoma / Genotipo / Enfermedades Neuromusculares Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Eur J Neurol Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Austria