A. Stepanova

发表

Genotyping of patients with phenylketonuria from different regions of Russia for determining BH4 responsiveness

A. Polyakov, T. Bushueva, S. Kutsev, 2017, Russian Journal of Genetics.

Mutation spectrum of the PAH gene in phenylketonuria patients in the Karachay-Cherkess Republic (Russia)

A. Polyakov, P. Gundorova, A. Stepanova, 2016, Russian Journal of Genetics.

Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene

M. Skoblov, A. Stepanova, D. Pyankov, 2022, Frontiers in Genetics.

Molecular Genetic Study of the Causes of Nonsyndromic Sensorineural Hearing Loss in Patients from Georgia

G. Tavartkiladze, A. Polyakov, O. Kvlividze, 2022, Russian Journal of Genetics.

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

A. Polyakov, O. Ryzhkova, A. Stepanova, 2022, International journal of molecular sciences.

Reliability of the search for 19 common mutations in the CFTR gene in Russian cystic fibrosis patients and the calculated frequency of the disease in Russian Federation

A. Polyakov, A. Stepanova, S. Krasovsky, 2016, Russian Journal of Genetics.

The Spectrum and Novel Mutations in RS1 Gene in a Russian Cohort of Patients with X-Linked Retinoschisis

A. Polyakov, A. Stepanova, V. Kadyshev, 2021, Russian Journal of Genetics.

Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus

I. Kuznetsova, P. Gundorova, A. Stepanova, 2018, PloS one.

Mutation p.E92K is the primary cause of cystic fibrosis in Chuvashes

A. Polyakov, A. V. Abrukova, A. Stepanova, 2012, Russian Journal of Genetics.

Genotyping of patients with phenylketonuria from different regions of Russia for determining BH4 responsiveness

A. Polyakov, T. Bushueva, S. Kutsev, 2017, Russian Journal of Genetics.

Mutation spectrum of the PAH gene in phenylketonuria patients in the Karachay-Cherkess Republic (Russia)

A. Polyakov, P. Gundorova, A. Stepanova, 2016, Russian Journal of Genetics.

[Gyrate atrophy of the choroid and retina with ornithinemia and foveoschisis (clinical observation)].

R. Zinchenko, A. Stepanova, I. V. Egorova, 2022, Vestnik oftalmologii.

Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia

A. Stepanova, G. Rudenskaya, I. G. Sermyagina, 2019, Scientific Reports.

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia

I. Kuznetsova, S. Kutsev, P. Gundorova, 2019, PloS one.

Mutation p.E92K is the primary cause of cystic fibrosis in Chuvashes

A. Polyakov, A. V. Abrukova, A. Stepanova, 2012, Russian Journal of Genetics.

BH4-deficient hyperphenylalaninemia in Russia

I. Kanivets, G. Baydakova, E. Zakharova, 2021, PloS one.

GENETIC FACTORS OF MALE INFERTILITY, THEIR COMBINATIONS AND THE SPERMATOLOGICAL CHARACTERISTICS OF MEN WITH FERTILITY FAILURES

A. Polyakov, L. Akulenko, A. Stepanova, 2018, Andrology and Genital Surgery.

The frequency and spectrum of mutations and the IVS8-T polymorphism of the CFTR gene in Russian infertile men

A. Polyakov, A. Stepanova, L. Kurilo, 2010, Russian Journal of Genetics.

Updating Diagnostic Spectrum of Recurring CFTR Mutations

A. Polyakov, S. Krasovskiy, A. Stepanova, 2018, Russian Journal of Genetics.

CFTR Gene Variants and Genotypes in Russian Patients with CBAVD Syndrome

A. Polyakov, A. Stepanova, T. Adyan, 2020, Russian Journal of Genetics.

L138ins Variant of the CFTR Gene in Russian Infertile Men

O. Shchagina, O. Solovova, A. Stepanova, 2023, Genes.

[Inherited retinal dystrophy: first results of RPE65 gene replacement therapy in Russia].

A. Stepanova, I. V. Zolnikova, V. Kadyshev, 2022, Vestnik oftalmologii.