Sofya A. Ionova
Moskvorechye St
Moscow, MOW 115522, Russian Federation
Moscow, MOW 115522, Russian Federation
Last Updated: 09/26/2026
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Found 10 publications
Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects.
Journal: Genes
Published: October 27, 2025
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.
Journal: Pigment cell & melanoma research
Published: June 19, 2025
The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin.
Journal: Frontiers in genetics
Published: October 14, 2024
Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.
Journal: International journal of molecular sciences
Published: September 09, 2024
Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.
Journal: Genes
Published: August 21, 2024
The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania.
Journal: International journal of molecular sciences
Published: August 08, 2024
Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.
Journal: Biomedicines
Published: July 28, 2024
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.
Journal: Genes
Published: June 20, 2023
High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Journal: Frontiers in endocrinology
Published: January 17, 2023
The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.
Journal: International journal of molecular sciences
Published: September 05, 2022
Showing 1-10 of 10
Last Updated: 09/26/2026