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List of works by Nejat Mahdieh

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

scientific article published on 31 October 2019

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

scientific article published on 22 December 2019

A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

scientific article published on 18 June 2020

A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect ⬇️

scientific article published on March 21, 2013

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

scientific article published on 13 December 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

scientific article

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

scientific article published in 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

scientific article published on 22 May 2019

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

scientific article published on 21 February 2019

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

scientific article published on 11 November 2020

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

scientific article published on March 9, 2011

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

scientific article published on 6 March 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

scientific article

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

scientific article

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