Your browser doesn't support javascript.
loading
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
Larsen, Mirjam; Rost, Simone; El Hajj, Nady; Ferbert, Andreas; Deschauer, Marcus; Walter, Maggie C; Schoser, Benedikt; Tacik, Pawel; Kress, Wolfram; Müller, Clemens R.
Afiliación
  • Larsen M; Department of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.
  • Rost S; Department of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.
  • El Hajj N; Department of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.
  • Ferbert A; Department of Neurology, Klinikum Kassel, Kassel, Germany.
  • Deschauer M; Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle, Germany.
  • Walter MC; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Munich, Germany.
  • Schoser B; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Munich, Germany.
  • Tacik P; Department of Neurology, Hannover Medical School, Hannover, Germany.
  • Kress W; Department of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.
  • Müller CR; Department of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.
Eur J Hum Genet ; 23(6): 808-16, 2015 Jun.
Article en En | MEDLINE | ID: mdl-25370034
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Proteínas Cromosómicas no Histona / Codón sin Sentido / Mutación Missense / Distrofia Muscular Facioescapulohumeral / Genes Modificadores Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Proteínas Cromosómicas no Histona / Codón sin Sentido / Mutación Missense / Distrofia Muscular Facioescapulohumeral / Genes Modificadores Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido