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Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
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- Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1132, doi. 10.3390/jpm12071132
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- Article
The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.
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- Journal of Personalized Medicine, 2021, v. 11, n. 6, p. 464, doi. 10.3390/jpm11060464
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- Article
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
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- Journal of Personalized Medicine, 2020, v. 10, n. 3, p. 140, doi. 10.3390/jpm10030140
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- Article
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.709419
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- Article
Carotid and Aortic Stiffness in Patients with Heterozygous Familial Hypercholesterolemia.
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- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0158964
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- Article
A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy.
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- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101750
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- Article
Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 17, p. 13159, doi. 10.3390/ijms241713159
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- Article
The prevalence of familial hypercholesterolemia in the West Siberian region of the Russian Federation: A substudy of the ESSE-RF.
- Published in:
- PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0181148
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- Article