Publications by authors named "Maria Bulakh"

Claim this Profile
H
Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.
Elena I Kondratyeva, Sergey N Avdeev, Tatiana A Kyian, Oksana P Ryzhkova, Yuliya L Melyanovskaya, Maria V Bulakh

Int J Mol Sci· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prenatal-Onset Autosomal Dominant Polycystic Kidney Disease: Clinical Spectrum and Genetic Complexity of a Pseudo-Recessive Phenotype.
Margarita Sharova, Marina Shumikchina, Larisa Prikhodina, Sergey Morozov, Maria Bulakh

Prenat Diagn· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy.
Elena Zinina, Maria Bulakh, Alena Chukhrova, Oksana Ryzhkova, Olga Shchagina

Clin Genet· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.
Daria Gorodilova, Elena Dadali, Vladimir Kenis, Evgenii Melchenko, Daria Akimova, Maria Bulakh

Int J Mol Sci· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the Gene.
Olga Shchagina, Leisan Gilazova, Alexandra Filatova, Zulfiia Vafina, Aysylu Murtazina, Maria Bulakh

Int J Mol Sci· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Spectrum of Pathogenic Variants in the Gene in the Russian Federation.
Polina Chausova, Tatiana Cherevatova, Elena Dadali, Aysylu Murtazina, Maria Bulakh

Int J Mol Sci· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding the Genotypic and Phenotypic Spectrum of -Related Conditions: Three More Cases.
Tatiana Kyian, Artem Borovikov, Inga Anisimova, Oksana Ryzhkova, Maria Bulakh

Genes (Basel)· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Maria Bulakh, Daria Polyakova, Elena Dadali, Galina Rudenskaya, Inna Sharkova

Gene· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Asymmetric scapuloperoneal phenotype of -related distal myopathy: case series.
Aysylu Murtazina, Dmitrii Subbotin, Anna Kuchina, Olga Gilvanova, Daniil Degterev, Maria Bulakh

Front Genet· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy.
Olga Shatokhina, Fatima Bostanova, Maria Bulakh, Anastasia Beresneva, Oxana Ryzhkova

Clin Genet· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.
Aysylu Murtazina, Artem Borovikov, Anna Kuchina, Olga Ovsova, Maria Bulakh

Int J Mol Sci· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.
Margarita Sharova, Tatyana Markova, Maria Sumina, Marina Petukhova, Maria Bulakh

Genes (Basel)· July 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Specificities of the DMD Gene Mutation Spectrum in Russian Patients.
Elena Zinina, Maria Bulakh, Alena Chukhrova, Oksana Ryzhkova, Peter Sparber

Int J Mol Sci· October 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis