List of works - Mohammad Miryounesi

A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.

scientific article

A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)

scientific article published on 01 May 2015

A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities.

scientific article published on 21 August 2015

A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β.

scientific article published on 16 May 2016

Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene

scientific article published on 28 June 2023

Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort

scientific article published on 15 April 2024

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review

scientific article published on 13 February 2024

Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series

scientific article

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases

scientific article published on 12 January 2024

Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review

scientific article published in September 2024

Expression Analysis of MiR-21, MiR-205, and MiR-342 in Breast Cancer in Iran ⬇️

scientific article published on 01 January 2012

Expression analysis of PAWP during mouse embryonic stem cell-based spermatogenesis in vitro

scientific article published on January 2014

Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection

scientific article published on 15 July 2023

First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.

scientific article published on January 2016

Hereditary inclusion body myopathy in Persian Jews: a case report from Iran.

scientific article published on 10 July 2013

Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability

scientific article published on 31 January 2022

Identification of novel mutations in and genes in families exhibiting thiamine metabolism dysfunction syndrome

scientific article published on 30 March 2024

Leigh syndrome associated with a novel mutation in the COX15 gene.

scientific article

Non-coding RNAs as potential therapeutic targets for receptor tyrosine kinase signaling in solid tumors: current status and future directions

scientific article published on 10 January 2024

Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review

scientific article published in 2024

Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family

scientific article published on 03 July 2015

The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum

scientific article published on 29 February 2024

List of works by Mohammad Miryounesi

A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.

A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)

A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities.

A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β.

Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene

Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review

Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases

Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review

Expression Analysis of MiR-21, MiR-205, and MiR-342 in Breast Cancer in Iran ⬇️

Expression analysis of PAWP during mouse embryonic stem cell-based spermatogenesis in vitro

Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection

First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.

Hereditary inclusion body myopathy in Persian Jews: a case report from Iran.

Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability

Identification of novel mutations in and genes in families exhibiting thiamine metabolism dysfunction syndrome

Leigh syndrome associated with a novel mutation in the COX15 gene.

Non-coding RNAs as potential therapeutic targets for receptor tyrosine kinase signaling in solid tumors: current status and future directions

Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review

Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family

The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum