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Author

Maria V. Bulakh

Observed names: M. V. Bulakh, Maria Bulakh, Булах, М.В., М. В. Булах
ORCID: 0000-0002-8674-7230
Observed ORCID: 0000-0002-8674-7230
OpenAlex ID: A5026775211
Specificities of the DMD Gene Mutation Spectrum in Russian Patients
2022 · Elena Zinina, Maria Bulakh, et al. · International Journal of Molecular Sciences · 19
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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
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Change in the spectrum of detected mutations in the DMD gene depending on the methodological capabilities of the laboratory
2023 · E. V. Zinina, M. V. Bulakh, et al. · Neuromuscular Diseases · 7
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The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene
2025 · Olga Shchagina, Leisan Gilazova, et al. · International Journal of Molecular Sciences · 4
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Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia
2025 · Elena I. Kondratyeva, Sergey N. Avdeev, et al. · International Journal of Molecular Sciences · 3
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Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy
2025 · Elena Zinina, Maria Bulakh, et al. · Clinical Genetics · 3
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Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases
2024 · Tatiana Kyian, Artem Borovikov, et al. · Genes · 3
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Possibility of exon skipping therapy for Duchenne muscular dystrophy in Russian patients: present and future
2024 · E. V. Zinina, M. V. Bulakh, et al. · Neuromuscular Diseases · 3
The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy
2024 · Olga Shatokhina, Fatima Bostanova, et al. · Clinical Genetics · 3
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Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia
2016 · E. L. Dadali, A. Kh.-M. Маkаоv, et al. · Neuromuscular Diseases · 3
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Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia
2025 · Daria Gorodilova, Elena Dadali, et al. · International Journal of Molecular Sciences · 2
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A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation
2025 · Polina Chausova, Tatiana Cherevatova, et al. · International Journal of Molecular Sciences · 2
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Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series
2024 · Aysylu Murtazina, Dmitrii Subbotin, et al. · Frontiers in Genetics · 2
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3
2023 · Aysylu Murtazina, Artem Borovikov, et al. · International Journal of Molecular Sciences · 2
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Prenatal‐Onset Autosomal Dominant Polycystic Kidney Disease: Clinical Spectrum and Genetic Complexity of a Pseudo‐Recessive Phenotype
2025 · Margarita Sharova, Marina Shumikchina, et al. · Prenatal Diagnosis · 1
Clinical and molecular genetic features of cases of Floating-Harbor syndrome
2025 · N. A. Makretskaya, O. R. Ismagilova, et al. · Problems of Endocrinology · 1
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Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients
2024 · Maria Bulakh, Daria Polyakova, et al. · Gene · 1
A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene
2021 · Inna V. Sharkova, Maria V. Bulakh, et al. · Annals of Clinical and Experimental Neurology · 1
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Sarcoglycanopathies: Clinical, Molecular and Genetic Characteristics, Epidemiology, Diagnostics and Treatment Options
2018 · M. V. Bulakh, O. P. Ryzhkova, et al. · Russian Journal of Genetics · 1
The prevalence of Duchenne/Becker muscular dystrophy in the Russian Federation
2026 · Elena Kistol, Alexander Pushkov, et al. · Frontiers in Genetics
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Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature
2026 · Daria Gorodilova, Vladimir Kenis, et al. · Frontiers in Medicine
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Author response for "Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy"
2025 · Elena Zinina, Maria Bulakh, et al. · Publons reviews and discussion
Author response for "The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy"
2024 · Olga Shatokhina, Fatima Bostanova, et al. · Publons reviews and discussion
Сongenital merozin-negative muscular dystrophy: from diagnosis to treatment prospects
2022 · Чаусова, П.А., Миловидова, Т.Б., et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
Results of the selective Duchenne/Becker screening program
2022 · Зинина, Е.В., Булах, М.В., et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
Works count: 33
Citation count: 70
H-index: 4
I10-index: 1
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