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

artículo científico publicado en 2019

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

artículo científico publicado en 2019

A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

artículo científico publicado en 2020

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

artículo científico publicado en 2021

Beta thalassemia in 31,734 cases with HBB gene mutations: Pathogenic and structural analysis of the common mutations; Iran as the crossroads of the Middle East

artículo científico publicado en 2016

Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra

artículo científico publicado en 2022

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 heterozygous GATA4 mutation in a family with autosomal dominant congenita

artículo científico publicado en 2019

Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients

artículo científico publicado en 2019

Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy

artículo científico publicado en 2020

Impact of Consanguineous Marriages in GJB2-Related Hearing Loss in the Iranian Population: A Report of a Novel Variant ⬇️

artículo científico publicado el 9 de marzo de 2011

MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation

artículo científico publicado en 2017

Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report

scientific article published on 26 September 2018

The promise of whole-exome sequencing in medical genetics

artículo científico publicado en 2013

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

artículo científico publicado en 2016

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