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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.
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.
Clinical Laboratory|November 20, 2010
Investigation of GJB6 large deletions in Iranian patients using quantitative real-time PCRNejat Mahdieh, Marzieh Raeisi, Atefeh Shirkavand, 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.
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.
Biochemical and Biophysical Research Communications|October 13, 2010
Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: implication for genetic counselingNejat Mahdieh, Atefeh Shirkavand, Marzieh Raeisi, et al.
European Journal of Medical Genetics|January 25, 2020
A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian familySima Binaafar, Ehsan Razmara, Nejat Mahdieh, et al.
International Journal of Cardiology|May 30, 2020
Genetic homozygosity in a diverse population: An experience of long QT syndromeNejat Mahdieh, Mohammadrafi Khorgami, Mahdieh Soveizi, et al.
International Journal of Genomics|June 28, 2024
Pancreatitis as a Main Consequence of APOC2-Related Hypertriglyceridemia: The Role of Nonsense and Frameshift VariantsBahareh Rabbani, Mohadeseh Aghli Moghadam, Shiva Esmaeili, et al.
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