An Overview of Mutation Detection Methods in Genetic Disorders

por Mahdieh, Nejat, Rabbani, Bahareh
Publicado 2013

HBB mutations and HbA2 level: Escaping the carrier screening programs

por Sharifi, Ameneh, Mahdieh, Nejat
Publicado 2020

21-Hydroxylase Deficiency: Newborn Screening in Iran?

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

A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease

por Kalayinia, Samira, Ghasemi, Serwa, Mahdieh, Nejat
Publicado 2019

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

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

A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non‐syndromic congenital heart disease

por Kalayinia, Samira, Maleki, Majid, Mahdavi, Mohammad, Mahdieh, Nejat
Publicado 2019

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

An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1

por Kalayinia, Samira, Talebi, Saeed, Miryounesi, Mohammad, Sarkhail, Peymaneh, Mahdieh, Nejat
Publicado 2021

A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1

por Kalayinia, Samira, Dalili, Mohammad, Pourirahim, Maryam, Maleki, Majid, Mahdieh, Nejat
Publicado 2023

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

GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co‐occurrence of a novel de novo translocation (5;7) and a likely pathogenic hete...

por Kalayinia, Samira, Maleki, Majid, Rokni‐Zadeh, Hassan, Changi‐Ashtiani, Majid, Ahangar, Hassan, Biglari, Alireza, Shahani, Tina, Mahdieh, Nejat
Publicado 2019

Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene

por Dalili, Setila, Hoseini Nouri, Seyyedeh Azade, Bayat, Reza, Koohmanaee, Shahin, Tabrizi, Manijeh, Zarkesh, Marjaneh, Tarang, Alireza, Mahdieh, Nejat
Publicado 2023

Determinants of perivascular adipose tissue stranding as a novel imaging marker and its relation to inflammatory biomarker high-sensitivity C-reactive protein

por Pouraliakbar, Hamidreza, Abouie, Abolfazl, Ziaeifar, Elham, Rakhshankhah, Nima, Shabestari, Abbas Arjmand, Rabiei, Parham, Mohebbi, Bahram, Alemzade-Ansari, Mohammad Javad, Mahdieh, Nejat
Publicado 2023

Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy

por Ashrafi, Mahmoud Reza, Haghighi, Roya, Badv, Reza Shervin, Ghabeli, Homa, Tavasoli, Ali Reza, Pourbakhtyaran, Elham, Rezaei, Zahra, Mahdieh, Nejat, Mohammadi, Pouria, Heidari, Morteza
Publicado 2022

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

por Ashrafi, Mahmoud Reza, Dehnavi, Ali Zare, Tavasoli, Ali Reza, Heidari, Morteza, Ghahvechi Akbari, Masoud, Ronagh, Ali Reza, Ghafouri, Mohammad, Mahdieh, Nejat, Mohammadi, Pouria, Rezaei, Zahra
Publicado 2023