Valeriia Yu. Danilchenko

Часть публикаций из профиля, по году от новых к старым. Это не полный список последних работ автора; работы без года — в конце.

• Assessing the Functional Significance of Novel and Rare Variants of the SLC26A4 Gene Found in Patients with Hearing Loss by Minigene Assay2025
• Analysis by Minigene Assay of the Splicing Effect of a Novel Variant c.1545T>G in the SLC26A4 Gene Associated with Hearing Loss2025
• Comparative analysis of haplotypes carrying pathogenic variants c.1545T>G, c.2027T>A and c.919-2A>G of the SLC26A4 gene in patients with hearing loss from the Tyva Republic (Southern Siberia)2025
• SPLICING VARIANTS IN THE ETIOLOGY OF MONOGENIC DISEASES: VARIANTS IN THE SLC26A4 GENE ASSOCIATED WITH HEARING LOSS2024
• Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains2023 · аннотациясвернуть

  One of the most common forms of genetic deafness has been predominantly associated with pathogenic variants in the GJB2 gene, encoding transmembrane protein connexin 26 (Cx26). The Cx26 molecule consists of an…

• Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)2023
• Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)2021 · аннотациясвернуть

  Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of…

• Gene Therapy for Angelman Syndrome: Contemporary Approaches and Future Endeavors2020