Polina A. Chausova

Moscow, MOW, Russian Federation

Last Updated: 09/26/2026

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Found 13 publications

Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies.

Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies.

Journal: Journal of neuromuscular diseases

Published: June 25, 2026

Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic Variant.

Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic Variant.

Journal: International journal of molecular sciences

Published: February 20, 2026

A comprehensive framework for the interpretation of TTN missense variants.

A comprehensive framework for the interpretation of TTN missense variants.

Journal: Genome medicine

Published: July 17, 2025

Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation.

Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation.

Journal: International journal of molecular sciences

Published: July 08, 2025

A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs

A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs

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

Published: December 28, 2024

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.

Journal: International journal of molecular sciences

Published: December 21, 2024

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin.

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

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease.

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease.

Journal: Frontiers in genetics

Published: February 04, 2024

X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene.

X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene.

Journal: International journal of molecular sciences

Published: March 15, 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

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.

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

The First Russian Patient with Native American Myopathy.

The First Russian Patient with Native American Myopathy.

Journal: Genes

Published: January 25, 2022

Showing 1-12 of 13

Last Updated: 09/26/2026