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List of works by Bahareh Rabbani

A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

scientific article published on 18 June 2020

An overview of mutation detection methods in genetic disorders

scientific article published on August 2013

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 East

scientific article

Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses

scientific article published on 17 January 2020

Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis

scientific article published on 8 February 2018

Genotypic effect of a mutation of the MYBPC3 gene and two phenotypes with different patterns of inheritance

scientific article published on 01 March 2018

Impact of Consanguineous Marriages in GJB2-Related Hearing Loss in the Iranian Population: A Report of a Novel Variant ⬇️

scientific article published on March 9, 2011

Next generation sequencing: implications in personalized medicine and pharmacogenomics

scientific article published on 12 April 2016

PCR-ELISA: a diagnostic assay for identifying Iranian HIV seropositives

scientific article published on January 2013

Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis

scientific article published on 31 January 2018

The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants

scientific article published on 01 September 2020

The promise of whole-exome sequencing in medical genetics

scientific article

p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche

scientific article published on 15 May 2020

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