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International Journal of Endocrinology|September 21, 2020
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel VariantsKatayoun Heshmatzad, Nejat Mahdieh, Ali Rabbani, et al.Clinical Case Reports|October 22, 2020
A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite maleSetilla Dalili, Bahareh Rabbani, Afagh Hassanzadeh Rad, et al.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.Acta Neurologica Belgica|June 13, 2021
A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathyPouria Mohammadi, Morteza Heidari, Mahmoud Reza Ashrafi, et al.Molecular Genetics & Genomic Medicine|June 8, 2026
MYO6 and Heart: A Novel Variant in a Deaf Infant With Supraventricular TachycardiaSamira Kalayinia, Tannaz Masoumi, Amirreza Taherkhani, 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 Laboratory|October 19, 2013
A novel PCBD gene mutation in an Iranian patient with hyperphenylalaninemiaMarzieh Raeisi, Nejat Mahdieh, Amir Yousefzadeh, 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.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.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.Pageof 10