Your browser doesn't support javascript.
loading
Unravelling the disease mechanism for TSPYL1 deficiency.
Buyse, Gunnar; Di Michele, Michela; Wijgaerts, Anouck; Louwette, Sophie; Wittevrongel, Christine; Thys, Chantal; Downes, Kate; Ceulemans, Berten; Van Esch, Hild; Van Geet, Chris; Freson, Kathleen.
  • Buyse G; Department of Pediatric Neurology, University Hospitals Leuven, 3000 Leuven, Belgium.
  • Di Michele M; Institut des Biomolécules Max Mousseron (IBMM), UMR 5247, Université de Montpellier, Ecole Nationale Supérieure de Chimie de Montpellier, 34090 Montpellier, France.
  • Wijgaerts A; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven 3000, Belgium.
  • Louwette S; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven 3000, Belgium.
  • Wittevrongel C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven 3000, Belgium.
  • Thys C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven 3000, Belgium.
  • Downes K; East Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK.
  • Ceulemans B; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK.
  • Van Esch H; Department of Pediatric Neurology, University hospital, University of Antwerp, 2000 Antwerp, Belgium.
  • Van Geet C; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.
  • Freson K; Laboratory for the Genetics of Cognition, Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium.
Hum Mol Genet ; 29(20): 3431-3442, 2020 12 18.
Article en En | MEDLINE | ID: mdl-33075815

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Muerte Súbita del Lactante / Proteínas Nucleares / Mutación del Sistema de Lectura / Proteoma / Fibroblastos Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2020 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Muerte Súbita del Lactante / Proteínas Nucleares / Mutación del Sistema de Lectura / Proteoma / Fibroblastos Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Infant / Male / Newborn Idioma: En Año: 2020 Tipo del documento: Article