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Genetic Landscape of Nephropathic Cystinosis in Russian Children

Frontiers in genetics, 2022-04, Vol.13, p.863157-863157

2022

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Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations

Clinical genetics, 2017-12, Vol.92 (6), p.639-644

2017

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Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus

BMC medical genetics, 2019-03, Vol.20 (1), p.44-44, Article 44

2019

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Main methodological approaches to the identification and diagnosis of monogenic hereditary diseases and problems in the organization of medical care and unified preventive programs

Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny, 2019-09, Vol.27 (5), p.865

2019

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Development of the Vector Finder Toolkit for Track Reconstruction in the BM@N Experiment

Physics of particles and nuclei letters, 2024, Vol.21 (3), p.544-552

2024

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The intermediate outcomes of delegation of obligations of medicinal support of patients with rare diseases to the Federal level in 2019-2020

Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny, 2022-03, Vol.30 (2), p.207

2022

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Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies

Scientific reports, 2016-05, Vol.6 (1), p.26440-26440, Article 26440

2016

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Results of the population and genetic study in the Republic of Tatarstan

Russian journal of genetics, 2014-05, Vol.50 (5), p.543-548

2014

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The normative legal regulation of medical care support of rare (orphan) diseases in adult population of The Russian Federation

Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny, 2021-03, Vol.29 (2), p.270

2021

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The specialized medical care of children with rare diseases

Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny, 2022-01, Vol.30 (1), p.134

2022

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High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia

Journal of cystic fibrosis, 2016-05, Vol.15 (3), p.e28-e32

2016

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Ethnically assortative marriage in the rural population of Tatarstan

Russian journal of genetics, 2011-02, Vol.47 (2), p.237-240

2011

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Marriage and migratory characteristics of the urban population of Karachay-Cherkessia (End of the 20th century)

Russian journal of genetics, 2016, Vol.52 (1), p.107-111

2016

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The cost of specialized medical care of children under spinal muscular atrophy in Moscow

Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny, 2021-01, Vol.29 (1), p.80

2021

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Marriage and Migratory Characteristics of the Urban Population of Karachay-Cherkessia (the End of the 20th Century)

Genetika, 2016-01, Vol.52 (1), p.120

2016

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

Russian journal of genetics, 2016-12, Vol.52 (12), p.1282-1290

2016

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Analysis of changes in the population genetic parameters of Afanas'evo raion of Kirov oblast with time

Russian journal of genetics, 2010, Vol.46 (1), p.120-124

2010

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Surname distribution and random inbreeding in Kirov oblast

Russian journal of genetics, 2009-10, Vol.45 (10), p.1247-1255

2009

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Marriage migration parameters in six rural districts of Bashkortostan Republic

Russian journal of genetics, 2009-03, Vol.45 (3), p.362-369

2009

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Population and Genetic Characteristics of Abazins in Karachay-Cherkessia (Marital Migrations and Surname Frequency Distribution)

Genetika, 2015-10, Vol.51 (10), p.1184

2015

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Epidemiology of monogenic hereditary diseases in Rostov oblast: Population dynamic factors determining the differentiation of the load of hereditary diseases in eight districts

Russian journal of genetics, 2009-02, Vol.45 (2), p.224-231

2009

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Epidemiology of monogenic hereditary diseases in Rostov oblast: Population dynamic factors determining the differentiation of the load of hereditary diseases in eight districts

Russian journal of genetics, 2009-04, Vol.45 (4), p.469-477

2009

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Marriage and migratory characteristic of Circassians (late 20th century)

Russian journal of genetics, 2016-03, Vol.52 (3), p.339-341

2016

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Genetic epidemiological study of Bashkortostan Republic: The effect of genetic structure of population on the load of monogenic hereditary diseases

Russian journal of genetics, 2009-04, Vol.45 (4), p.478-485

2009

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Population genetics of hereditary diseases in the child population of the Republic of Bashkortostan, Chuvashia, and Udmurtia

Genetika, 2012-05, Vol.48 (5), p.644

2012

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Genetic Landscape of Nephropathic Cystinosis in Russian Children

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus

Main methodological approaches to the identification and diagnosis of monogenic hereditary diseases and problems in the organization of medical care and unified preventive programs

Development of the Vector Finder Toolkit for Track Reconstruction in the BM@N Experiment

The intermediate outcomes of delegation of obligations of medicinal support of patients with rare diseases to the Federal level in 2019-2020

Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies

Results of the population and genetic study in the Republic of Tatarstan

The normative legal regulation of medical care support of rare (orphan) diseases in adult population of The Russian Federation

The specialized medical care of children with rare diseases

High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia

Ethnically assortative marriage in the rural population of Tatarstan

Marriage and migratory characteristics of the urban population of Karachay-Cherkessia (End of the 20th century)

The cost of specialized medical care of children under spinal muscular atrophy in Moscow

Marriage and Migratory Characteristics of the Urban Population of Karachay-Cherkessia (the End of the 20th Century)

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

Analysis of changes in the population genetic parameters of Afanas'evo raion of Kirov oblast with time

Surname distribution and random inbreeding in Kirov oblast

Marriage migration parameters in six rural districts of Bashkortostan Republic

Population and Genetic Characteristics of Abazins in Karachay-Cherkessia (Marital Migrations and Surname Frequency Distribution)

Epidemiology of monogenic hereditary diseases in Rostov oblast: Population dynamic factors determining the differentiation of the load of hereditary diseases in eight districts

Epidemiology of monogenic hereditary diseases in Rostov oblast: Population dynamic factors determining the differentiation of the load of hereditary diseases in eight districts

Marriage and migratory characteristic of Circassians (late 20th century)

Genetic epidemiological study of Bashkortostan Republic: The effect of genetic structure of population on the load of monogenic hereditary diseases

Population genetics of hereditary diseases in the child population of the Republic of Bashkortostan, Chuvashia, and Udmurtia

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