Found: 2

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  • A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.

    Published in:
    2022
    By:
    • 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
    Publication type:
    Case Study

  • Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.

    Published in:
    Frontiers in Genetics, 2022, p. 1, doi. 10.3389/fgene.2022.883211
    By:
    • Amin, Mutaz;
    • Vignal, Cedric;
    • Hamed, Ahlam A. A.;
    • Mohammed, Inaam N.;
    • Elseed, Maha A.;
    • Abubaker, Rayan;
    • Bakhit, Yousuf;
    • Babai, Arwa;
    • Elbadi, Eman;
    • Eltaraifee, Esraa;
    • Mustafa, Doua;
    • Yahia, Ashraf;
    • Osman, Melka;
    • Koko, Mahmoud;
    • Mustafa, Mohamed;
    • Alsiddig, Mohamed;
    • Haroun, Sahwah;
    • Elshafea, Azza;
    • Drunat, Severine;
    • Elsayed, Liena E. O.
    Publication type:
    Article