Maria S. Pokrovskaya
Petroverigskii Lane, 10/3, 101990
Moscow, MOW, Russian Federation
Moscow, MOW, Russian Federation
Last Updated: 09/26/2026
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Found 20 publications
Genetic Determinants of Severe Hypertriglyceridemia: Rare Variants in LPL, APOC2, APOA5, GPIHBP1, LMF1, APOE and Polygenic Risk.
Journal: International journal of molecular sciences
Published: April 27, 2026
Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia.
Journal: International journal of molecular sciences
Published: October 08, 2024
The Yield of Genetic Testing and Putative Genetic Factors of Disease Heterogeneity in Long QT Syndrome Patients.
Journal: International journal of molecular sciences
Published: September 25, 2024
A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.
Journal: International journal of molecular sciences
Published: June 21, 2024
Genetic landscape in Russian patients with familial left ventricular noncompaction.
Journal: Frontiers in cardiovascular medicine
Published: April 14, 2023
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Journal: Journal of personalized medicine
Published: June 06, 2022
The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.
Journal: International journal of molecular sciences
Published: May 17, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Journal: Frontiers in genetics
Published: May 13, 2021
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Journal: Genes
Published: December 16, 2020
Actual approaches to the transportation of biological samples at low temperatures.
Journal: Klinicheskaia laboratornaia diagnostika
Published: November 27, 2020
Last Updated: 09/26/2026