1. Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia)
    Elena Shakhtshneider et al, 2021, Journal of Personalized Medicine CrossRef
  2. Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region
    Vasily E. Ramensky et al, 2021, Frontiers in Genetics CrossRef
  3. LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients
    Thais Kristini Almendros Barbosa et al, 2023, Gene CrossRef
  4. Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing
    Aimi Zafira Razman et al, 2022, International Journal of Molecular Sciences CrossRef
  5. Analysis of Clinical and Biochemical Characteristics of Patients With Genetically Confirmed Familial Hypercholesterolemia in Russian North Western District Residents
    V. A. Korneva et al, 2022, Kardiologiia CrossRef
  6. Development of molecular genetic technologies in Pavlov University: 20 years history and achievements
    S. N. Pchelina, 2022, The Scientific Notes of the Pavlov University CrossRef
  7. Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study
    Ryuichi Mashima et al, 2022, International Journal of Molecular Sciences CrossRef
  8. A Clinical Case of Probable Sitosterolemia
    Michishige Terasaki et al, 2024, International Journal of Molecular Sciences CrossRef
  9. Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice
    Valentina V. Miroshnikova et al, 2023, Journal of Personalized Medicine CrossRef
  10. Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning
    D. E. Ivanoshchuk et al, 2023, Vavilov Journal of Genetics and Breeding CrossRef
  11. Analysis of the low density lipoprotein receptor gene (LDLR) mutation spectrum in Russian familial hypercholesterolemia
    V. B. Vasilyev et al, 2022, Vavilov Journal of Genetics and Breeding CrossRef
  12. Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience
    Oleg S. Glotov et al, 2023, Journal of Personalized Medicine CrossRef
  13. The NGS panel for genetic testing in cardiology: from the evaluation of disease risk to pharmacogenetics
    V. V. Miroshnikova et al, 2023, Pharmacogenetics and Pharmacogenomics CrossRef