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Clinical Case Reports|February 18, 2021
HBB mutations and HbA2 level: Escaping the carrier screening programsAmeneh Sharifi, Nejat MahdiehInternational Journal of Endocrinology|August 13, 2024
Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R GeneShohreh Maleknejad, Setila Dalili, Ameneh Sharifi, et al.Molecular Genetics and Metabolism Reports|September 16, 2024
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 geneSetila Dalili, Nasrin Sedighi Pirsaraei, Ameneh Sharifi, et al.Clinical Neurology and Neurosurgery|January 1, 2021
Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicityNejat Mahdieh, Ameneh Sharifi, Ali Rabbani, et al.Molecular Genetics & Genomic Medicine|November 11, 2025
An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian GirlSetila Dalili, Seyyedeh Azade Hoseini Nouri, Ameneh Sharifi, et al.Molecular Genetics & Genomic Medicine|February 11, 2025
Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and ACMG Insights in an Iranian FamilySamira Kalayinia, Hamed Hesami, Reza Shervin Badv, et al.Blood Reviews|July 26, 2016
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 EastNejat Mahdieh, Bahareh RabbaniIranian Journal of Pediatrics|January 16, 2014
An overview of mutation detection methods in genetic disordersNejat Mahdieh, Bahareh RabbaniInternational Journal of Audiology|November 21, 2009
Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequencyNejat Mahdieh, Bahareh RabbaniJournal of Cardiovascular and Thoracic Research|December 12, 2019
A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart diseaseSamira Kalayinia, Serwa Ghasemi, Nejat MahdiehPageof 10