Varvara A. Galkina

Moskvorechje Street, 1
Moscow, MOW 115478, Russian Federation

Last Updated: 09/26/2026

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Found 11 publications

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.

Journal: Orphanet journal of rare diseases

Published: April 26, 2025

Example of Intrafamilial Clinical Polymorphism in a Family with Osteogenesis Imperfecta.

Example of Intrafamilial Clinical Polymorphism in a Family with Osteogenesis Imperfecta.

Journal: Genes

Published: March 11, 2025

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

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Journal: International journal of molecular sciences

Published: May 20, 2022

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome.

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome.

Journal: Frontiers in neurology

Published: August 20, 2021

Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation.

Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation.

Journal: Frontiers in genetics

Published: March 09, 2021

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Journal: Genes

Published: March 30, 2020

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.

Journal: International journal of molecular sciences

Published: November 26, 2019

Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic.

Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic.

Journal: International journal of molecular epidemiology and genetics

Published: June 25, 2018

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.

Journal: BMC medical genomics

Published: March 06, 2018

Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness

Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness

Journal: Genetika

Published: May 10, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026