Get started
Author

Т. В. Маркова

Observed names: Markova, Tatiana V., T. Markova, T. V. Markova, T.V. Markova, Tatiana V. Markova, Tatiana Markova, Tatiana V. Markova, Tatiana Vladimirovna Markova, Tatyana Markova, Tatyana V. Markova, Маркова, Т.В., Т.В. Маркова
ORCID: 0000-0002-2672-6294
Observed ORCID: 0000-0002-2672-6294
OpenAlex ID: A5057812292
Genetic screening of Russian Usher syndrome patients toward selection for gene therapy
2018 · Marianna E. Ivanova, Vladimir N. Trubilin, et al. · Ophthalmic Genetics · 18
Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4
2022 · Tatiana Markova, Vladimir Kenis, et al. · Genes · 17
PDF
Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I
2022 · Tatyana Markova, Vladimir Kenis, et al. · Genes · 16
PDF
The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity
2024 · I. Viakhireva, I. Bychkov, et al. · Bone · 14
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant
2023 · Elena Merkuryeva, Tatiana Markova, et al. · International Journal of Molecular Sciences · 13
PDF
Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review
2022 · Anton Tyurin, Elena Merkuryeva, et al. · Biomedicines · 13
PDF
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
2022 · Olga Levchenko, Elena Dadali, et al. · International Journal of Molecular Sciences · 11
PDF
KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
2020 · G. E. Rudenskaya, V. A. Kadnikova, et al. · BMC Neurology · 11
PDF
Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene
2021 · Tatiana Markova, Peter Sparber, et al. · Molecular Genetics & Genomic Medicine · 10
PDF
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies
2023 · Margarita Sharova, Tatyana Markova, et al. · Genes · 9
PDF
Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy
2020 · Olga Mironovich, Elena Dadali, et al. · Genes · 9
PDF
Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel
2022 · Olga Shatokhina, Nailya Galeeva, et al. · International Journal of Molecular Sciences · 8
PDF
Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene
2022 · Tatiana Vladimirovna Markova, Vladimir Kenis, et al. · Molecular Genetics & Genomic Medicine · 7
PDF
Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene
2025 · Evgeniya Melnik, Tatiana Markova, et al. · Clinical Genetics · 6
Presentation of Rare Phenotypes Associated with the FKBP10 Gene
2024 · Elena S. Merkuryeva, Tatiana V. Markova, et al. · Genes · 6
Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases
2022 · Olga Shchagina, Valeriy Fedotov, et al. · International Journal of Molecular Sciences · 6
PDF
VEXAS syndrome: on the threshold of changing perceptions of known diseases
2023 · B. D. Chaltsev, A. V. Torgashina, et al. · Modern Rheumatology Journal · 5
PDF
Clinical and genetic characteristics and orthopedic manifestations of the Saul–Wilson syndrome in two Russian patients
2021 · Tatyana V. Markova, Vladimir M. Kenis, et al. · Pediatric Traumatology Orthopaedics and Reconstructive Surgery · 5
Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN gene
2019 · A. O. Borovikov, I. V. Sharkova, et al. · Neuromuscular Diseases · 5
PDF
Molecular and Clinical Aspects of Osteogenesis Imperfecta Type VI: A Case Series with Novel SERPINF1 Gene Variants
2025 · Elena S. Merkuryeva, Tatyana S. Nagornova, et al. · International Journal of Molecular Sciences · 4
PDF
Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective
2025 · Tatiana Krylova, Yulia Itkis, et al. · International Journal of Molecular Sciences · 4
PDF
Case Report: New phenotype of late-onset Stüve–Wiedemann syndrome due to a C-terminal variant in the LIFR gene
2024 · Evgenia Melnik, Margarita Sharova, et al. · Frontiers in Pediatrics · 4
Differential diagnosis of juvenile idiopathic arthritis and multiple epiphyseal dysplasia: Experience of multidisciplinary interaction
2023 · D. V. Osipova, T. V. Markova, et al. · Rheumatology Science and Practice · 4
PDF
A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH)
2024 · Polina Tsygankova, Denis Chistol, et al. · Genes · 3
PDF
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study
2024 · Artem Borovikov, Nailya Galeeva, et al. · Human Mutation · 3
PDF
Works count: 98
Citation count: 260
H-index: 9
I10-index: 9
Year
Topic
Type