Информация об авторе

Polyakov, A.

Выпуск Раздел Название Файл
Том 52, № 2 (2016) Human Genetics 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
Том 52, № 12 (2016) Human Genetics Mutation spectrum of the PAH gene in phenylketonuria patients in the Karachay-Cherkess Republic (Russia)
Том 53, № 1 (2017) Human Genetics Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders
Том 53, № 6 (2017) Human Genetics Genotyping of patients with phenylketonuria from different regions of Russia for determining BH4 responsiveness
Том 53, № 7 (2017) Human Genetics DNA copy number analysis of the DFNB1 hereditary hearing loss locus
Том 53, № 7 (2017) Human Genetics Evaluation of clinical significance of с.2956G>A (rs112287730) polymorphism in FBN1 gene in Marfan syndrome
Том 53, № 7 (2017) Human Genetics The spectrum of mutations in the PAH gene in patients with hyperphenylalaninemia from the Karachay-Cherkess Republic
Том 54, № 10 (2018) Human Genetics Updating Diagnostic Spectrum of Recurring CFTR Mutations
Том 54, № 1 (2018) Medical Genetics Hereditary Disorders in Circassians of the Karachay-Cherkess Republic
Том 54, № 2 (2018) Reviews and Theoretical Articles Sarcoglycanopathies: Clinical, Molecular and Genetic Characteristics, Epidemiology, Diagnostics and Treatment Options
Том 54, № 6 (2018) Human Genetics Medical Genetic Study of Hereditary Diseases in Abazins of the Karachay-Cherkess Republic
Том 54, № 6 (2018) Human Genetics HTT Gene Premutation Allele Frequencies in the Russian Federation
Том 54, № 7 (2018) Human Genetics Diversity and Prevalence of Hereditary Diseases among Nogais of the Karachay-Cherkess Republic
Том 55, № 2 (2019) Human Genetics Molecular and Genetic Study of Limb-Girdle Muscular Dystrophy 2D in Patient Cohorts with Various Forms of Progressive Muscular Dystrophies
Том 55, № 5 (2019) Human Genetics Molecular Genetic Causes and Clinical Description of Branchio-Oto-renal Syndrome
Том 55, № 8 (2019) Human Genetics Complex Molecular Diagnostics of Hemophilia A in Russian Patients
Том 55, № 8 (2019) Human Genetics Molecular-Genetic Study of Phenylketonuria in Patients from Georgia
Том 55, № 12 (2019) Human Genetics Spectrum of Mutations in the ATP7B Gene in Russian Patients with Wilson’s Disease

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