Search - Institut Pasteur Access content directly

Filter your results

4 Results
authFullName_s : Alaa Kamel
Image document

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( WT1 ) gene

Caroline Eozenou , Nitzan Gonen , Maria Sol Touzon , Anne Jørgensen , Svetlana A Yatsenko , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Journal articles pasteur-02872463v1

Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia

Inas Mazen , Ken Mcelreavey , Aya Elaidy , Alaa Kamel , Mohamed Abdel-Hamid
Sexual Development, 2017, 11 (5-6), pp.275-279. ⟨10.1159/000485278⟩
Journal articles pasteur-03521848v1

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

Inas Mazen , Mona Mekkawy , Alaa Kamel , Mona Essawi , Heba Hassan , et al.
American Journal of Medical Genetics Part A, 2021, 185 (6), pp.1666-1677. ⟨10.1002/ajmg.a.62129⟩
Journal articles pasteur-03263623v1

A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis

Inas Mazen , Alaa Kamel , Kenneth Mcelreavey , Anu Bashamboo , Aya Elaidy , et al.
Sexual Development, 2023, 16 (4), pp.261-265. ⟨10.1159/000520366⟩
Journal articles hal-04150451v1