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Biochemical Genetics|May 12, 2025
Novel EDARADD Variant in Ectodermal Dysplasia Unveiled by Whole-Exome SequencingSamira Kalayinia, Saranaz Seyed AliAkbar, Amirali Soheili, et al.
Journal of Clinical Laboratory Analysis|May 23, 2019
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 congenital heart diseaseSamira Kalayinia, Majid Maleki, Hassan Rokni-Zadeh, et al.
Clinical Laboratory|November 21, 2012
A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changesBahareh Rabbani, Nejat Mahdieh, Fatemeh Sayarifar, et al.
Hemoglobin|April 11, 2017
The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, IranMasoumeh Jalilian, Farid Azizi Jalilian, Leila Ahmadi, 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.
Clinical Case Reports|March 9, 2026
A Novel Homozygous CUL7 Variant in an Iranian Patient Expands the Genetic Spectrum of 3 M SyndromeMaryam Arefzadeh, Bahareh Rabbani, Saeideh Abdolahpour, et al.
European Journal of Medical Genetics|March 13, 2026
Genetic and Clinical Insights into Pontocerebellar Hypoplasia: Identification of Novel Variants in an Iranian CohortZahra Rezaei, Farnoosh Emami, Morteza Heidari, 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.
Genetic Testing and Molecular Biomarkers|April 24, 2024
The Association Between the 5-Hydroxytryptamine Receptor 2A Gene Variants rs6311 and rs6313 and Obstructive Sleep Apnea in the Iranian Kurdish PopulationMohammad Abdolsamadi, Sharareh Rasouli, Ali Alizadeh Severi, et al.
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