The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants

by Katayoun Heshmatzad, Nejat Mahdieh, Ali Rabbani, Abdolah Didban, Bahareh Rabbani
Published 2020-01-01

A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

by Setilla Dalili, Bahareh Rabbani, Afagh Hassanzadeh Rad, Shaahin Koohmanaee, Nejat Mahdieh
Published 2020-10-01

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

by Nejat Mahdieh, Mahdieh Soveizi, Ali Reza Tavasoli, Ali Rabbani, Mahmoud Reza Ashrafi, Alfried Kohlschütter, Bahareh Rabbani
Published 2021-02-01

p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche

by Mahdieh Soveizi, Nejat Mahdieh, Aria Setoodeh, Fatemeh Sayarifard, Farzaneh Abbasi, Himangshu S. Bose, Bahareh Rabbani, Ali Rabbani
Published 2020-01-01

Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche

by Mahsa Kolahdouz, Mahin Hashemipour, Hossein Khanahmad, Bahareh Rabbani, Mansoor Salehi, Ali Rabbani, Arman Ansari, Mona Mobalegh Naseri
Published 2016-01-01