List of works - Parinaz Moghimi - Paulina

List of works by Parinaz Moghimi

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

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

scientific article published on 30 March 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

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