Maria V. Bulakh

1 Moskvorechye St
Moscow, MOW 115522, Russian Federation

Last Updated: 09/26/2026

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Found 16 publications

Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.

Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.

Journal: International journal of molecular sciences

Published: November 10, 2025

Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature.

Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature.

Journal: Frontiers in medicine

Published: October 22, 2025

Prenatal-Onset Autosomal Dominant Polycystic Kidney Disease: Clinical Spectrum and Genetic Complexity of a Pseudo-Recessive Phenotype.

Prenatal-Onset Autosomal Dominant Polycystic Kidney Disease: Clinical Spectrum and Genetic Complexity of a Pseudo-Recessive Phenotype.

Journal: Prenatal diagnosis

Published: August 11, 2025

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

Journal: International journal of molecular sciences

Published: June 03, 2025

Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy.

Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy.

Journal: Clinical genetics

Published: January 21, 2025

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.

Journal: International journal of molecular sciences

Published: December 21, 2024

The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene.

The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene.

Journal: International journal of molecular sciences

Published: December 13, 2024

Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.

Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.

Journal: Genes

Published: November 07, 2024

Clinical and molecular genetic features of cases of Floating-Harbor syndrome

Clinical and molecular genetic features of cases of Floating-Harbor syndrome

Journal: Problemy endokrinologii

Published: October 24, 2024

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

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

Journal: Frontiers in genetics

Published: April 09, 2024

Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Journal: Gene

Published: November 27, 2023

Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.

Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.

Journal: International journal of molecular sciences

Published: November 26, 2023

Showing 1-12 of 16

Last Updated: 09/26/2026