Your browser doesn't support javascript.
loading
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
Koch, Johannes; Freisinger, Peter; Feichtinger, René G; Zimmermann, Franz A; Rauscher, Christian; Wagentristl, Hans P; Konstantopoulou, Vassiliki; Seidl, Rainer; Haack, Tobias B; Prokisch, Holger; Ahting, Uwe; Sperl, Wolfgang; Mayr, Johannes A; Maier, Esther M.
Afiliação
  • Koch J; Department of Pediatrics, Paracelsus Medical University Salzburg, Muellner Hauptstr. 48, 5020, Salzburg, Austria. j.koch@salk.at.
  • Freisinger P; Department of Pediatrics Kreisklinken Reutlingen, Steinenbergstr. 31, 72764, Reutlingen, Germany. freisinger_p@klin-rt.de.
  • Feichtinger RG; Department of Pediatrics, Paracelsus Medical University Salzburg, Muellner Hauptstr. 48, 5020, Salzburg, Austria. r.feichtinger@salk.at.
  • Zimmermann FA; Department of Pediatrics, Paracelsus Medical University Salzburg, Muellner Hauptstr. 48, 5020, Salzburg, Austria. f.zimmermann@salk.at.
  • Rauscher C; Department of Pediatrics, Paracelsus Medical University Salzburg, Muellner Hauptstr. 48, 5020, Salzburg, Austria. c.rauscher@salk.at.
  • Wagentristl HP; Department of Pediatrics, Krankenhaus der Barmherzigen Brueder, Esterhazystr. 26, 7000, Eisenstadt, Austria. wagentristl@gmx.at.
  • Konstantopoulou V; Department of Pediatrics, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria. vassiliki.konstantopoulou@meduniwien.ac.at.
  • Seidl R; Department of Pediatrics, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria. rainer.seidl@meduniwien.ac.at.
  • Haack TB; Institute of Human Genetics, Helmholtz Zentrum München, Ingolstaedter Landstr. 1, 85764, Neuherberg, Germany. tobias.haack@helmholtz-muenchen.de.
  • Prokisch H; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Trogerstr. 32/3, 81675, Munich, Germany. tobias.haack@helmholtz-muenchen.de.
  • Ahting U; Institute of Human Genetics, Helmholtz Zentrum München, Ingolstaedter Landstr. 1, 85764, Neuherberg, Germany. prokisch@helmholtz-muenchen.de.
  • Sperl W; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Trogerstr. 32/3, 81675, Munich, Germany. prokisch@helmholtz-muenchen.de.
  • Mayr JA; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Trogerstr. 32/3, 81675, Munich, Germany. uwe.ahting@humangenetik.med.tum.de.
  • Maier EM; Department of Pediatrics, Paracelsus Medical University Salzburg, Muellner Hauptstr. 48, 5020, Salzburg, Austria. w.sperl@salk.at.
Orphanet J Rare Dis ; 10: 40, 2015 Apr 02.
Article em En | MEDLINE | ID: mdl-25887401
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / Proteínas Mitocondriais / Proteínas de Membrana Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / Proteínas Mitocondriais / Proteínas de Membrana Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article