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Journal of Human Genetics|August 27, 2010
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populationsNejat Mahdieh, Bahareh Rabbani, Susan Wiley, et al.
Gene|May 15, 2012
In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutationsBahareh Rabbani, Nejat Mahdieh, Mohammad Taghi Haghi Ashtiani, et al.
Clinical Case Reports|July 30, 2026
Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, Through a Study of an Iranian Family With Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype-Genotype Correlation AnalysisSaeideh Kavousi, Farzad Kamali, Bahareh Rabbani, et al.
Medical Journal of the Islamic Republic of Iran|July 7, 2018
A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/DNejat Mahdieh, Sedigheh Saedi, Mahdieh Soveizi, et al.
Cell Journal|February 14, 2024
A Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive StudySaeideh Kavousi, Mohammad Dalili, Bahareh Rabbani, et al.
Molekuliarnaia Genetika, Mikrobiologiia I Virusologiia|December 25, 2013
PCR-ELISA: a diagnostic assay for identifying Iranian HIV seropositivesRezvan Bagheri, Bahareh Rabbani, Nejat Mahdieh, et al.
American Journal of Medical Genetics. Part A|August 20, 2021
Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia during exercise: The TRDN arrhythmia syndromeBahareh Rabbani, Mohammadrafi Khorgami, Mohammad Dalili, et al.
Iranian Journal of Pediatrics|October 12, 2012
Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 GeneBahareh Rabbani, Nejat Mahdieh, Mohammad-Taghi Haghi Ashtiani, et al.
Clinical Neurology and Neurosurgery|February 16, 2018
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosisNejat Mahdieh, Sahar Mikaeeli, Ali Reza Tavasoli, et al.
Journal of Molecular Neuroscience : MN|May 29, 2026
MECP2 Variant Spectrum and Genotype-Phenotype Correlations in Iranian Rett Syndrome Patients: Identification of a Novel Frameshift MutationParnoush Booalizadeh, Iman Salahshourifar, Bahareh Rabbani, et al.
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