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Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.
Drissi, Ichrak; Fletcher, Emily; Shaheen, Ranad; Nahorski, Michael; Alhashem, Amal M; Lisgo, Steve; Fernández-Jaén, Alberto; Schon, Katherine; Tlili-Graiess, Kalthoum; Smithson, Sarah F; Lindsay, Susan; J Sharpe, Hayley; Alkuraya, Fowzan S; Woods, Geoff.
Afiliação
  • Drissi I; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Fletcher E; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Nahorski M; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Alhashem AM; Pediatrics, Prince Sultan Military Medical City, Riyadh, Al Riyadh, Saudi Arabia.
  • Lisgo S; Human Developmental Biology Resource, Newcastle Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
  • Fernández-Jaén A; Especialista en Neurología Infantil, Hospital Universitario Quirónsalud de Madrid, Madrid, Spain.
  • Schon K; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Tlili-Graiess K; Neuroradiology Section, Department of Radiology, Prince Sultan Military Medical, Riyadh, Saudi Arabia.
  • Smithson SF; Department of Clinical Genetics, St Michaels Hospital Bristol, Bristol, UK.
  • Lindsay S; Human Developmental Biology Resource, Newcastle Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
  • J Sharpe H; Signalling Programm, Babraham Institute, Babraham Research Campus, Cambridge, UK.
  • Alkuraya FS; Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Woods G; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
J Med Genet ; 59(4): 358-365, 2022 04.
Article em En | MEDLINE | ID: mdl-33820834
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfolipases Tipo C / Holoprosencefalia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfolipases Tipo C / Holoprosencefalia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido