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Novel variants causing megalencephalic leukodystrophy in Sudanese families.
Amin, Mutaz; Vignal, Cedric; Hamed, Ahlam A A; Mohammed, Inaam N; Elseed, Maha A; Drunat, Severine; Babai, Arwa; Eltaraifee, Esraa; Elbadi, Iman; Abubaker, Rayan; Mustafa, Doaa; Yahia, Ashraf; Koko, Mahmoud; Osman, Melka; Bakhit, Yousuf; Elshafea, Azza; Alsiddig, Mohamed; Haroun, Sahwah; Lelay, Gurvan; Elsayed, Liena E O; Ahmed, Ammar E; Boespflug-Tanguy, Odile; Dorboz, Imen.
Afiliação
  • Amin M; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Vignal C; Université de Paris, NeuroDiderot, UMR 1141, INSERM, Paris, France.
  • Hamed AAA; Unité de Génétique Moleculaire, Departement de Genetique Médicale, APHP, Hopital Robert-Debré, Paris, France.
  • Mohammed IN; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Elseed MA; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Drunat S; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Babai A; Université de Paris, NeuroDiderot, UMR 1141, INSERM, Paris, France.
  • Eltaraifee E; Unité de Génétique Moleculaire, Departement de Genetique Médicale, APHP, Hopital Robert-Debré, Paris, France.
  • Elbadi I; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Abubaker R; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Mustafa D; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Yahia A; Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
  • Koko M; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Osman M; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Bakhit Y; Institut du Cerveau, INSERM U1127, CNRS UMR7225, Sorbonne Université, Paris, France.
  • Elshafea A; Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
  • Alsiddig M; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Haroun S; Faculty of Dentistry, University of Khartoum, Khartoum, Sudan.
  • Lelay G; Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
  • Elsayed LEO; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Ahmed AE; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Boespflug-Tanguy O; Université de Paris, NeuroDiderot, UMR 1141, INSERM, Paris, France.
  • Dorboz I; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
J Hum Genet ; 67(3): 127-132, 2022 Mar.
Article em En | MEDLINE | ID: mdl-34504271
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Cistos / Megalencefalia Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Cistos / Megalencefalia Idioma: En Ano de publicação: 2022 Tipo de documento: Article