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  1. 1
    A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

    A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability by Mutaz Amin, Cedric Vignal, Esraa Eltaraifee, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Arwa Babai, Iman Elbadi, Doua Mustafa, Rayan Abubaker, Mohamed Mustafa, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Imen Dorboz

    Published 2022-11-01
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  2. 2
    Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan

    Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan by Mutaz Amin, Mutaz Amin, Cedric Vignal, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Rayan Abubaker, Rayan Abubaker, Yousuf Bakhit, Yousuf Bakhit, Arwa Babai, Eman Elbadi, Esraa Eltaraifee, Doua Mustafa, Ashraf Yahia, Melka Osman, Mahmoud Koko, Mohamed Mustafa, Mohamed Alsiddig, Sahwah Haroun, Azza Elshafea, Severine Drunat, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Odile Boespflug-Tanguy, Imen Dorboz, Imen Dorboz

    Published 2022-06-01
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