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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
International journal of molecular sciences, 2023-11, Vol.24 (22), p.16231
2023
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Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94) and Chromosome 21 Trisomy in the Same Patient
International journal of molecular sciences, 2023-11, Vol.24 (21), p.15527
2023
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An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser)
Current issues in molecular biology, 2023-12, Vol.46 (1), p.96-105
2023
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Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia-Alania, Case Series Report
International journal of molecular sciences, 2023-03, Vol.24 (5), p.4515
2023
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Economic outcomes of centralized procurements of gene therapy for patients with orphan diseases: inherited retinal dystrophy
Farmakoèkonomika (Moskva. Online), 2022-01, Vol.14 (4), p.451-461
2022
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Corrigendum: Epidemiology of rare hereditary diseases in the European part of Russia: Point and cumulative prevalence
Frontiers in genetics, 2022-09, Vol.13, p.1019916-1019916
2022
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Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence
Frontiers in genetics, 2021-08, Vol.12, p.678957-678957
2021
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Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study
Genes, 2023-11, Vol.14 (11), p.2041
2023
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Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.1-207, Article 207
2020
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Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic
International journal of molecular sciences, 2020-01, Vol.21 (1), p.325
2020
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Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report
BMC medical genetics, 2020-10, Vol.21 (Suppl 1), p.156-5, Article 156
2020
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Stroke in Children and Adolescents
Neuroscience and behavioral physiology, 2023-07, Vol.53 (6), p.994-1001
2023
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A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region
BMC medical genomics, 2020-09, Vol.13 (Suppl 8), p.130-5, Article 130
2020
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Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders
BMC medical genomics, 2018-02, Vol.11 (Suppl 1), p.8-8, Article 8
2018
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LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome
Human molecular genetics, 2019-10, Vol.28 (19), p.3323-3326
2019
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Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy
Mitochondrion, 2020-01, Vol.50, p.139-144
2020
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Frequent Genetic Variants of Autosomal Recessive Nonsyndromic Forms of Inherited Retinal Diseases in the Russian Federation
Russian journal of genetics, 2024-04, Vol.60 (4), p.503-515
2024
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The Spectrum and Novel Mutations in RS1 Gene in a Russian Cohort of Patients with X-Linked Retinoschisis
Russian journal of genetics, 2021-07, Vol.57 (7), p.847-855
2021
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Immigration of the Russian Urban Population of the North Caucasus
Russian journal of genetics, 2021-08, Vol.57 (8), p.978-981
2021
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Clinical and Molecular Genetic Characteristics of Patients with Oculocutaneous Albinism Type 1
Russian journal of genetics, 2022-04, Vol.58 (4), p.485-489
2022
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Population-Genetic Characteristics of Ingush in North Ossetia-Alania
Russian journal of genetics, 2023-08, Vol.59 (8), p.840-845
2023
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Isolation by Distance in North Ossetians
Russian journal of genetics, 2021-03, Vol.57 (3), p.371-373
2021
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Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy
Vestnik oftal'mologii, 2023, Vol.139 (1), p.69
2023
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Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic
International journal of molecular epidemiology and genetics, 2018-01, Vol.9 (4), p.34-42
2018
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Genetic epidemiological study of monogenic hereditary diseases in the Republic of Tatarstan: population dynamic factors determining the differentiation of the load of hereditary diseases in five districts
Genetika, 2012-09, Vol.48 (9), p.1105
2012
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