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Anna Stepanova

10PUBLICATIONS

36CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Environmental epidemiologyCarbon capture engineering (excl. sequestration)Epigenetics (incl. genome methylation and epigenomics)Neonatology

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Publications (10)

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|Mar 18, 2026

[Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 2. Clinical, social and demographic characteristics of inherited retinal pathologies].

V V Kadyshev, A A Stepanova, K K Shefer

|Mar 18, 2026

[Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 1. Molecular genetic characteristics of inherited retinal pathologies].

V V Kadyshev, A A Stepanova, K K Shefer

|Feb 06, 2026

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

Valeriia A Kovalskaia, Tatiana B Cherevatova, Elena V Zinina

|Dec 11, 2025

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

Elena Kondratyeva, Anna Efremova, Yuliya Melyanovskaya

|Nov 27, 2024

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

Natalya Ogorodova, Anna Stepanova, Vitaly Kadyshev

|Nov 25, 2023

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

Vitaly V Kadyshev, Ekaterina A Alekseeva, Vladimir V Strelnikov

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Frequent Collaborators

7 joint publications

Vitaly V Kadyshev

6 joint publications

Olga Shchagina

2 joint publications

Oxana P Ryzhkova

2 joint publications

I V Zolnikova

2 joint publications

I V Kondrashina

2 joint publications

Sergey Kutsev

2 joint publications

K K Shefer

2 joint publications

Rena A Zinchenko

2 joint publications

Aleksander V Polyakov

1 joint publications

G E Rudenskaya

Frequent Collaborators

7 joint publications

Vitaly V Kadyshev

6 joint publications

Olga Shchagina

2 joint publications

Oxana P Ryzhkova

2 joint publications

I V Zolnikova

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