Anna A. Stepanova

Baltiyskaya Street
Moscow, MOW 125315, Russian Federation

Last Updated: 09/26/2026

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Found 19 publications

Short-Read NGS of a Long-Range CYP21A2 Amplicon as an Improved Alternative to Sanger Sequencing for Congenital Adrenal Hyperplasia Genetic Testing.

Short-Read NGS of a Long-Range CYP21A2 Amplicon as an Improved Alternative to Sanger Sequencing for Congenital Adrenal Hyperplasia Genetic Testing.

Journal: International journal of molecular sciences

Published: June 26, 2026

L467F;F508del Complex Allele in a Heterozygous State with CFTRdele2,3: What to Expect from CFTR Modulators?

L467F;F508del Complex Allele in a Heterozygous State with CFTRdele2,3: What to Expect from CFTR Modulators?

Journal: International journal of molecular sciences

Published: October 23, 2025

Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.

Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.

Journal: Pigment cell & melanoma research

Published: June 19, 2025

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

A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa.

A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa.

Journal: International journal of molecular sciences

Published: October 27, 2024

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.

Journal: Biomedicines

Published: July 28, 2024

Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome.

Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome.

Journal: International journal of molecular sciences

Published: October 21, 2023

Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population.

Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population.

Journal: International journal of molecular sciences

Published: September 30, 2023

A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.

A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.

Journal: Genes

Published: September 13, 2023

L138ins Variant of the CFTR Gene in Russian Infertile Men.

L138ins Variant of the CFTR Gene in Russian Infertile Men.

Journal: Genes

Published: April 24, 2023

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

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

Showing 1-12 of 19

Last Updated: 09/26/2026