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The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania

International journal of molecular sciences, 2024-09, Vol.25 (17), p.9734

2024

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Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene

International journal of molecular sciences, 2024-05, Vol.25 (9), p.4598

2024

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The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene

International journal of molecular sciences, 2022-10, Vol.23 (20), p.12127

2022

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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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Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome

International journal of molecular sciences, 2024-10, Vol.25 (20), p.11260

2024

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Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns

Journal of clinical immunology, 2024-04, Vol.44 (4), p.93, Article 93

2024

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Presentation of Rare Phenotypes Associated with the FKBP10 Gene

Genes, 2024-05, Vol.15 (6), p.674

2024

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A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene

Annaly kliničeskoj i èksperimentalʹnoj nevrologii (Online), 2021-10, Vol.15 (3), p.85-91

2021

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Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families

Journal of pediatric genetics (Birmingham, Ala.), 2019-06, Vol.8 (2), p.058-062

2019

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A rare germline mutation c.2752 A>G (p.M918V) in the RET protooncogene in a patient with medullary and papillary thyroid carcinomas in cervical lymph node metastases: a case report and review of the literature

Klinicheskai͡a︡ i ėksperimentalʹnai͡a︡ tireoidologii͡a, 2016-06, Vol.12 (1), p.46

2016

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Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the IPAH/I Gene

International journal of molecular sciences, 2024-05, Vol.25 (9)

2024

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Clinical, genetic, and orthopedic characteristics of large group of patients with diastrophic dysplasia

Ortopedii͡a︡, travmatologii͡a︡ i vosstanovitelʹnai͡a︡ khirurgii͡a︡ detskogo vozrasta, 2024-04, Vol.12 (1), p.29-41

2024

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Principles of the differential diagnosis of achondroplasia and pseudoachondroplasia

Ortopedii͡a︡, travmatologii͡a︡ i vosstanovitelʹnai͡a︡ khirurgii͡a︡ detskogo vozrasta, 2023-04, Vol.11 (1), p.17-28

2023

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Noonan-like syndrome with loose anagen hair associated with the heterozygous mutation c.4A>G (p.Ser2Gly) in the SHOC2 gene

Voprosy prakticheskoĭ pediatrii, 2020, Vol.15 (2), p.93-98

2020

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Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases

International journal of molecular sciences, 2022-08, Vol.23 (17), p.9576

2022

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Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy

International journal of molecular sciences, 2023-06, Vol.24 (12), p.9786

2023

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Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs ( ATP6AP1 ), and Liver Transplantation

International journal of molecular sciences, 2023-04, Vol.24 (8), p.7449

2023

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Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy

International journal of molecular sciences, 2023-08, Vol.24 (15), p.12357

2023

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Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene

International journal of molecular sciences, 2024-10, Vol.25 (19), p.10841

2024

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Asymmetric scapuloperoneal phenotype of MATR3 -related distal myopathy: case series

Frontiers in genetics, 2024-08, Vol.15, p.1414928

2024

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Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome

International journal of molecular sciences, 2023-11, Vol.24 (22), p.16287

2023

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Complex Diagnostics of Non-Specific Intellectual Developmental Disorder

International journal of molecular sciences, 2022-07, Vol.23 (14), p.7764

2022

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A corpus study of English “nautical” idioms

Neophilology, 2021 (28), p.636-644

Shchagina, Olga V.

2021

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Specificities of the DMD Gene Mutation Spectrum in Russian Patients

International journal of molecular sciences, 2022-10, Vol.23 (21), p.12710

2022

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The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome

Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns

Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns

Presentation of Rare Phenotypes Associated with the FKBP10 Gene

A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families

A rare germline mutation c.2752 A>G (p.M918V) in the RET protooncogene in a patient with medullary and papillary thyroid carcinomas in cervical lymph node metastases: a case report and review of the literature

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the IPAH/I Gene

Clinical, genetic, and orthopedic characteristics of large group of patients with diastrophic dysplasia

Principles of the differential diagnosis of achondroplasia and pseudoachondroplasia

Noonan-like syndrome with loose anagen hair associated with the heterozygous mutation c.4A>G (p.Ser2Gly) in the SHOC2 gene

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases

Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs ( ATP6AP1 ), and Liver Transplantation

Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy

Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene

Asymmetric scapuloperoneal phenotype of MATR3 -related distal myopathy: case series

Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder

A corpus study of English “nautical” idioms

Specificities of the DMD Gene Mutation Spectrum in Russian Patients

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