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A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
Amin, Mutaz; Vignal, Cedric; Eltaraifee, Esraa; Mohammed, Inaam N; Hamed, Ahlam A A; Elseed, Maha A; Babai, Arwa; Elbadi, Iman; Mustafa, Doua; Abubaker, Rayan; Mustafa, Mohamed; Drunat, Severine; Elsayed, Liena E O; Ahmed, Ammar E; Boespflug-Tanguy, Odile; Dorboz, Imen.
Afiliação
  • Amin M; Faculty of Medicine, Al-Neelain University, Khartoum, Sudan.
  • Vignal C; INSERM UMR 1141 PROTECT, Université Paris Diderot- Sorbonne Paris Cité, Paris, France.
  • Eltaraifee E; Unité de Génétique Moleculaire, Departement de Genetique Médicale, APHP, Hopital Robert-Debré, 75019, Paris, France.
  • Mohammed IN; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Hamed AAA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Elseed MA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Babai A; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Elbadi I; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Mustafa D; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Abubaker R; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Mustafa M; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Drunat S; National University Biomedical Research Institute, National University, Khartoum, Sudan.
  • Elsayed LEO; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Ahmed AE; INSERM UMR 1141 PROTECT, Université Paris Diderot- Sorbonne Paris Cité, Paris, France.
  • Boespflug-Tanguy O; Unité de Génétique Moleculaire, Departement de Genetique Médicale, APHP, Hopital Robert-Debré, 75019, Paris, France.
  • Dorboz I; Department of Basic Sciences, College of Medicine, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia.
BMC Med Genomics ; 15(1): 236, 2022 11 08.
Article em En | MEDLINE | ID: mdl-36348459
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article