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Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.
Rawlins, Lettie E; Almousa, Hashem; Khan, Shazia; Collins, Stephan C; Milev, Miroslav P; Leslie, Joseph; Saint-Dic, Djenann; Khan, Valeed; Hincapie, Ana Maria; Day, Jacob O; McGavin, Lucy; Rowley, Christine; Harlalka, Gaurav V; Vancollie, Valerie E; Ahmad, Wasim; Lelliott, Christopher J; Gul, Asma; Yalcin, Binnaz; Crosby, Andrew H; Sacher, Michael; Baple, Emma L.
Afiliação
  • Rawlins LE; RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.
  • Almousa H; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, United Kingdom.
  • Khan S; Department of Biology, Concordia University, Montreal, Quebec, Canada.
  • Collins SC; RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.
  • Milev MP; Department of Biological Sciences, International Islamic University, Islamabad, Pakistan.
  • Leslie J; Institute of Genetics and Molecular and Cellular Biology, Inserm, Illkirch, France.
  • Saint-Dic D; Inserm, University of Bourgogne Franche-Comté, Dijon, France.
  • Khan V; Department of Biology, Concordia University, Montreal, Quebec, Canada.
  • Hincapie AM; RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.
  • Day JO; Department of Biology, Concordia University, Montreal, Quebec, Canada.
  • McGavin L; Department of Molecular Diagnostics, Rehman Medical Institute, Peshawar, Pakistan.
  • Rowley C; Department of Biology, Concordia University, Montreal, Quebec, Canada.
  • Harlalka GV; RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.
  • Vancollie VE; Faculty of Health, University of Plymouth, Plymouth, United Kingdom.
  • Ahmad W; University Hospitals Plymouth NHS Trust, Plymouth, United Kingdom.
  • Lelliott CJ; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom.
  • Gul A; RILD Wellcome Wolfson Medical Research Centre, RD&E (Wonford) NHS Foundation Trust, University of Exeter Medical School, Exeter, United Kingdom.
  • Yalcin B; Department of Pharmacology, Rajarshi Shahu College of Pharmacy, Malvihir, Buldana, India.
  • Crosby AH; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom.
  • Sacher M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Baple EL; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom.
PLoS Genet ; 18(3): e1010114, 2022 03.
Article em En | MEDLINE | ID: mdl-35298461
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Microcefalia Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Microcefalia Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos