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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-33075815
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sudden Infant Death / Nuclear Proteins / Frameshift Mutation / Proteome / Fibroblasts Type of study: Prognostic_studies Limits: Animals / Female / Humans / Infant / Male / Newborn Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Belgium
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sudden Infant Death / Nuclear Proteins / Frameshift Mutation / Proteome / Fibroblasts Type of study: Prognostic_studies Limits: Animals / Female / Humans / Infant / Male / Newborn Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Belgium