Your browser doesn't support javascript.
loading
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Yigit, Gökhan; Sheffer, Ruth; Daana, Muhannad; Li, Yun; Kaygusuz, Emrah; Mor-Shakad, Hagar; Altmüller, Janine; Nürnberg, Peter; Douiev, Liza; Kaulfuss, Silke; Burfeind, Peter; Wollnik, Bernd; Brockmann, Knut.
  • Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany.
  • Sheffer R; Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.
  • Daana M; Child Development Institute, Clalit Health Services, Tel Aviv, Israel.
  • Li Y; Institute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany.
  • Kaygusuz E; Institute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany.
  • Mor-Shakad H; Molecular Biology and Genetics, Bilecik Seyh Edebali University, Bilecik, Turkey.
  • Altmüller J; Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.
  • Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Douiev L; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Kaulfuss S; Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.
  • Burfeind P; Institute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany.
  • Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany.
  • Brockmann K; Institute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany kbrock@med.uni-goettingen.de bernd.wollnik@med.uni-goettingen.de.
J Med Genet ; 59(6): 549-553, 2022 06.
Article en En | MEDLINE | ID: mdl-34172529
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Mutación Missense / Dinamina I Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Mutación Missense / Dinamina I Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans Idioma: En Año: 2022 Tipo del documento: Article