Maria V Bulakh

6PUBLICATIONS
24CO-AUTHORS
Cell and nuclear divisionEpigenetics (incl. genome methylation and epigenomics)Medical mycologyImmunogenetics (incl. genetic immunology)
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Publications (6)

|Dec 11, 2025
Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.

Elena I Kondratyeva, Sergey N Avdeev, Tatiana A Kyian

|Jul 29, 2025
Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.

Daria Gorodilova, Elena Dadali, Vladimir Kenis

|Apr 06, 2025
Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy.

Elena Zinina, Maria Bulakh, Alena Chukhrova

|Feb 13, 2025
A Spectrum of Pathogenic Variants in the <i>LAMA2</i> Gene in the Russian Federation.

Polina Chausova, Tatiana Cherevatova, Elena Dadali

|Feb 13, 2025
The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the <i>LMNA</i> Gene.

Olga Shchagina, Leisan Gilazova, Alexandra Filatova

|Jan 11, 2024
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.

Aysylu Murtazina, Artem Borovikov, Anna Kuchina

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