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1.
Description of the First Registered Case of Lopes-Maciel-Rodan Syndrome in Russia.
Int J Mol Sci;
23(20)2022 Oct 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-36293294
2.
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Int J Mol Sci;
23(21)2022 Oct 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-36361766
3.
Inter-Cell and Inter-Chromosome Variability of 5-Hydroxymethylcytosine Patterns in Noncultured Human Embryonic and Extraembryonic Cells.
Cytogenet Genome Res;
156(3): 150-157, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30497063
4.
Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling.
Genet Med;
20(3): 360-364, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29155419
5.
Genetic determination of the vascular reactions in humans in response to the diving reflex.
Am J Physiol Heart Circ Physiol;
312(3): H622-H631, 2017 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27923785
6.
Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
J Hum Genet;
62(8): 789-795, 2017 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-28405014
7.
Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.
Physiol Rep;
12(8): e16015, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38653581
8.
A New Leu714Arg Variant in the Converter Domain of MYH7 is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy.
Front Biosci (Schol Ed);
16(1): 1, 2024 Feb 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-38538344
9.
Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience.
J Pers Med;
13(8)2023 Aug 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37623486
10.
Next-Generation Sequencing-Based Monitoring of Intestinal Bacteria and Bacteriophages Following Fecal Microbiota Transplantation in Inflammatory Bowel Diseases.
Pathogens;
12(12)2023 Dec 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38133321
11.
The Telomeric Repeats of HHV-6A Do Not Determine the Chromosome into Which the Virus Is Integrated.
Genes (Basel);
14(2)2023 02 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-36833448
12.
Evaluation of Gut Microbiota in Healthy Persons and Type 1 Diabetes Mellitus Patients in North-Western Russia.
Microorganisms;
11(7)2023 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-37512985
13.
Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples.
Genes (Basel);
15(1)2023 Dec 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38254935
14.
Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review.
Front Genet;
13: 846101, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35664296
15.
RNA Sequencing of Whole Blood Defines the Signature of High Intensity Exercise at Altitude in Elite Speed Skaters.
Genes (Basel);
13(4)2022 03 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-35456380
16.
Identification of Genetic Risk Factors of Severe COVID-19 Using Extensive Phenotypic Data: A Proof-of-Concept Study in a Cohort of Russian Patients.
Genes (Basel);
13(3)2022 03 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-35328087
17.
Basic Predictive Risk Factors for Cytokine Storms in COVID-19 Patients.
Front Immunol;
12: 745515, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34858403
18.
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Biomed Rep;
14(1): 15, 2021 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-33269076
19.
Related expression of TRKA and P75 receptors and the changing copy number of MYC-oncogenes determine the sensitivity of brain tumor cells to the treatment of the nerve growth factor in combination with cisplatin and temozolomide.
Drug Metab Pers Ther;
2020 Sep 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-32887179
20.
Related expression of TRKA and P75 receptors and the changing copy number of MYC-oncogenes determine the sensitivity of brain tumor cells to the treatment of the nerve growth factor in combination with cisplatin and temozolomide.
Drug Metab Pers Ther;
35(4)2020 09 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34704697