Viktoria V. Zabnenkova

Moskvorechie St, 1
Moscow, MOW 115522, Russian Federation

Last Updated: 09/26/2026

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Found 14 publications

Rare SMA Patients: A Comprehensive Look at Clinical Features, Genetic Profiles and Therapeutic Approaches.

Rare SMA Patients: A Comprehensive Look at Clinical Features, Genetic Profiles and Therapeutic Approaches.

Journal: International journal of molecular sciences

Published: March 28, 2026

Biallelic variants in the UTRN gene cause a novel form of multiple congenital arthrogryposis.

Biallelic variants in the UTRN gene cause a novel form of multiple congenital arthrogryposis.

Journal: Frontiers in genetics

Published: July 11, 2025

FA2H gene-associated spastic paraplegia (SPG35) - familial case with late onset

FA2H gene-associated spastic paraplegia (SPG35) - familial case with late onset

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: June 03, 2025

Patients with Papillary Renal Cancer and Germline Duplication of MET Exons 5-21.

Patients with Papillary Renal Cancer and Germline Duplication of MET Exons 5-21.

Journal: Biomedicines

Published: April 04, 2025

Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene.

Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene.

Journal: Clinical genetics

Published: February 16, 2025

Exploring the Prevalence of SMN1 Duplication and Deletion in Russia and Its Impact on Carrier Screening.

Exploring the Prevalence of SMN1 Duplication and Deletion in Russia and Its Impact on Carrier Screening.

Journal: International journal of molecular sciences

Published: December 31, 2024

Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.

Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.

Journal: Clinical genetics

Published: December 02, 2024

Clinical and molecular genetic features of cases of Floating-Harbor syndrome

Clinical and molecular genetic features of cases of Floating-Harbor syndrome

Journal: Problemy endokrinologii

Published: October 24, 2024

Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in the LIFR gene.

Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in the LIFR gene.

Journal: Frontiers in pediatrics

Published: June 02, 2024

Early-onset familial Alzheimer's disease with spastic paraparesis associated with PSEN1 gene

Early-onset familial Alzheimer's disease with spastic paraparesis associated with PSEN1 gene

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: November 23, 2023

Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation.

Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation.

Journal: International journal of neonatal screening

Published: December 01, 2022

Identification of large deletions in the APC gene in Russian patients with familial adenomatous polyposis.

Identification of large deletions in the APC gene in Russian patients with familial adenomatous polyposis.

Journal: Neoplasma

Published: December 30, 2019

Showing 1-12 of 14

Last Updated: 09/26/2026