Olga L. Shatokhina

Moscow, MOW, Russian Federation

Last Updated: 09/26/2026

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Found 15 publications

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Journal: Clinical genetics

Published: November 27, 2025

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

Journal: International journal of molecular sciences

Published: June 03, 2025

A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.

A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.

Journal: The journal of international advanced otology

Published: February 12, 2025

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.

Journal: The journal of international advanced otology

Published: August 19, 2024

Developmental and epileptic encephalopathy produced by the ATP1A2 mutation

Developmental and epileptic encephalopathy produced by the ATP1A2 mutation

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

Published: July 29, 2024

The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy.

The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy.

Journal: Clinical genetics

Published: October 26, 2023

The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.

The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.

Journal: Bone

Published: September 22, 2023

TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study.

TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study.

Journal: International journal of molecular sciences

Published: September 12, 2023

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation.

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation.

Journal: International journal of molecular sciences

Published: March 06, 2023

Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.

Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.

Journal: International journal of molecular sciences

Published: October 31, 2022

Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.

Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.

Journal: Journal of personalized medicine

Published: September 28, 2022

Genetic and Clinical Spectrum of GNE Myopathy in Russia.

Genetic and Clinical Spectrum of GNE Myopathy in Russia.

Journal: Genes

Published: September 13, 2022

Showing 1-12 of 15

Last Updated: 09/26/2026