121 results on '"GLOTOV, OLEG S."'
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2. Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients.
3. Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.
4. The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation
5. Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples
6. Next-Generation Sequencing-Based Monitoring of Intestinal Bacteria and Bacteriophages Following Fecal Microbiota Transplantation in Inflammatory Bowel Diseases
7. The Effect of Pathogenic Tumor Suppressor Gene Variants on COVID-19: A Report of Three Cases with Varied Severity and Outcomes
8. Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples.
9. Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience
10. Evaluation of Gut Microbiota in Healthy Persons and Type 1 Diabetes Mellitus Patients in North-Western Russia
11. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage
12. The Telomeric Repeats of HHV-6A Do Not Determine the Chromosome into Which the Virus Is Integrated
13. Whole genome amplification of small amounts of DNA to determine the molecular karyotype of cells
14. Evaluating chromosomal segregation in a family where both spouses carry an autosomal translocation.
15. Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population
16. Description of the First Registered Case of Lopes–Maciel–Rodan Syndrome in Russia
17. Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions
18. Evaluating Chromosomal Segregation in a Family Where Both Spouses Carry an Autosomal Translocation
19. Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review
20. RNA Sequencing of Whole Blood Defines the Signature of High Intensity Exercise at Altitude in Elite Speed Skaters
21. Identification of Genetic Risk Factors of Severe COVID-19 Using Extensive Phenotypic Data: A Proof-of-Concept Study in a Cohort of Russian Patients
22. Basic Predictive Risk Factors for Cytokine Storms in COVID-19 Patients
23. Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples
24. RNA sequencing of whole blood defines the signature of high intensity exercise at altitude in elite speed skaters
25. Major predictive risk factors for а cytokine storm in COVID-19 patients (a retrospective clinical trials)
26. Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome
27. 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
28. Related expression of TRKA and P75 receptors and the changing copy number ofMYC-oncogenes determine the sensitivity of brain tumor cells to the treatment of the nerve growth factor in combination with cisplatin and temozolomide
29. Bacteroides fragilis is a potential marker of effective microbiota transplantation in acute graft-versus-host disease treatment
30. Mosaicism in preimplantation human embryos
31. Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities
32. Polymorphisms in xenobiotic-metabolizing genes and the risk of chronic lymphocytic leukemia and non-Hodgkinʼs lymphoma in adult Russian patients
33. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage
34. Whole‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia
35. Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
36. Whole-exome sequencing in Russian children with non-type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY-related and unrelated genes.
37. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage
38. Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling
39. Inter-Cell and Inter-Chromosome Variability of 5-Hydroxymethylcytosine Patterns in Noncultured Human Embryonic and Extraembryonic Cells
40. Mutations in the ghrelin receptor gene GHSR in congenital hypopituitarism
41. Genome-wide 5-hydroxymethylcytosine patterns in human spermatogenesis are associated with semen quality
42. Genetic determination of the vascular reactions in humans in response to the diving reflex
43. Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group
44. A study of genetic markers of human height
45. ANALYSIS OF ASSOCIATION OF LIPID METABOLISM GENES POLYMORPHISM WITH BMI, WAIST CIRCUMFERENCE AND BLOOD LIPIDOGRAM PARAMETERS IN WOMEN
46. Association study of APOE, LPL and NOS3 polymorphisms with the risk of common cardio pathology in children and pregnant women
47. Analysis of UCPs, PPARs and PGC-1 gene polyorphism in elderly people from North-West region of Russia
48. «Ageingfeatures» analysis of IGF-1 and PGC-1 genes polymorphism
49. Analysis of genes polymorphisms of renin-angiotensine systems in population, athletes and elderly people
50. Analysis of ACE, AGTR1, eNOS, MTHFR, MTRR and APOE genes polymorphisms in the population of North-West of Russia
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