Search filters

List of works by Mohammad-Reza Ghasemi

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

Autophagy ATG16L1 rs2241880 impacts the colorectal cancer risk: A case-control study

scientific article published in January 2022

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

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

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

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

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

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

Paulina is supported by:

About Paulina

Help