An Overview of Mutation Detection Methods in Genetic Disorders

por Mahdieh, Nejat, Rabbani, Bahareh
Publicado 2013

21-Hydroxylase Deficiency: Newborn Screening in Iran?

por Mahdieh, Nejat, Rabbani, Bahareh, Rabbani, Ali
Publicado 2012

TCAP gene is not a common cause of cardiomyopathy in Iranian patients

por Alaei, Zahra, Zamani, Nasrin, Rabbani, Bahareh, Mahdieh, Nejat
Publicado 2023

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

por Heshmatzad, Katayoun, Mahdieh, Nejat, Rabbani, Ali, Didban, Abdolah, Rabbani, Bahareh
Publicado 2020

A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

por Dalili, Setilla, Rabbani, Bahareh, Hassanzadeh Rad, Afagh, Koohmanaee, Shaahin, Mahdieh, Nejat
Publicado 2020

A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D

por Mahdieh, Nejat, Saedi, Sedigheh, Soveizi, Mahdieh, Rabbani, Bahareh, Najafi, Nasim, Maleki, Majid
Publicado 2018

Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene

por Rabbani, Bahareh, Mahdieh, Nejat, Haghi Ashtiani, Mohammad-Taghi, Akbari, Mohammad-Taghi, Rabbani, Ali
Publicado 2011

A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene

por Nikasa, Parisa, Rabbani, Bahareh, Hejazi, Mohammad Saeid, Firouzi, Ata, Baharvand, Hossein, Totonchi, Mehdi, Mahdieh, Nejat
Publicado 2021

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

por Soveizi, Mahdieh, Mahdieh, Nejat, Setoodeh, Aria, Sayarifard, Fatemeh, Abbasi, Farzaneh, Bose, Himangshu S., Rabbani, Bahareh, Rabbani, Ali
Publicado 2020

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

por Mahdieh, Nejat, Soveizi, Mahdieh, Tavasoli, Ali Reza, Rabbani, Ali, Ashrafi, Mahmoud Reza, Kohlschütter, Alfried, Rabbani, Bahareh
Publicado 2021

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

por Kolahdouz, Mahsa, Hashemipour, Mahin, Khanahmad, Hossein, Rabbani, Bahareh, Salehi, Mansoor, Rabbani, Ali, Ansari, Arman, Naseri, Mona Mobalegh
Publicado 2016