207 results on '"Glotov, Andrey S."'
Search Results
2. Replication of Known and Identification of Novel Associations in Biobank-Scale Datasets: A Survey Using UK Biobank and FinnGen.
3. Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis
4. Assessment of quadrivalent characteristics influencing chromosome segregation by analyzing human preimplantation embryos from reciprocal translocation carriers
5. Supplementary material 1 from: Tonyan ZN, Puppo IL, Saifitdinova AF, Vavilova TV, Glotov AS (2024) Assessment of quadrivalent characteristics influencing chromosome segregation by analyzing human preimplantation embryos from reciprocal translocation carriers. Comparative Cytogenetics 18: 1-13. https://doi.org/10.3897/compcytogen.18.115070
6. Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges
7. Diagnostics of preeclampsia based on Congo red binding to urinary components: Rationales and limitations
8. Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples
9. bioGWAS: A Simple and Flexible Tool for Simulating GWAS Datasets
10. Plasma microRNA Profiling in Type 2 Diabetes Mellitus: A Pilot Study
11. Environmental genetics and predictive medicine: 20 years later. New trends and old basis
12. The Effect of Pathogenic Tumor Suppressor Gene Variants on COVID-19: A Report of Three Cases with Varied Severity and Outcomes
13. Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients.
14. Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.
15. The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation
16. Proteomic predictors of preterm birth
17. Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases
18. Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples.
19. bioGWAS: A Simple and Flexible Tool for Simulating GWAS Datasets.
20. The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
21. Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience
22. Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
23. Current Status and Prospects of the Single-Cell Sequencing Technologies for Revealing the Pathogenesis of Pregnancy-Associated Disorders
24. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage
25. Evaluating chromosomal segregation in a family where both spouses carry an autosomal translocation.
26. Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies
27. Aggregation of Genome-Wide Association Data from FinnGen and UK Biobank Replicates Multiple Risk Loci for Pregnancy Complications
28. Plasma miRNA Profile in High Risk of Preterm Birth during Early and Mid-Pregnancy
29. Analysis of the pathogenic CYP21A2 gene variants in patients with clinical, biochemical and combined manifestations of hyperandrogenism
30. Evaluation of the effectiveness of modified CRD tests in the diagnosis of preeclampsia
31. Description of the First Registered Case of Lopes–Maciel–Rodan Syndrome in Russia
32. Evaluating Chromosomal Segregation in a Family Where Both Spouses Carry an Autosomal Translocation
33. Genetic and Phenotypic Factors Affecting Glycemic Response to Metformin Therapy in Patients with Type 2 Diabetes Mellitus
34. Overview of Transcriptomic Research on Type 2 Diabetes: Challenges and Perspectives
35. Current Trends in the Diagnosis, Screening and Treatment of Spinal Muscular Atrophy
36. Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review
37. RNA Sequencing of Whole Blood Defines the Signature of High Intensity Exercise at Altitude in Elite Speed Skaters
38. Identification of Genetic Risk Factors of Severe COVID-19 Using Extensive Phenotypic Data: A Proof-of-Concept Study in a Cohort of Russian Patients
39. Additional file 1 of Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery
40. Cytogenomic Profile of Uterine Leiomyoma: In Vivo vs. In Vitro Comparison
41. Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples
42. High-Throughput Sequencing of Circulating MicroRNAs in Plasma and Serum during Pregnancy Progression
43. Genetics of macrovascular complications in type 2 diabetes
44. RNA sequencing of whole blood defines the signature of high intensity exercise at altitude in elite speed skaters
45. Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery
46. Current relevance of non-invasive prenatal study of cell-free fetal DNA in the mother’s blood and prospects for its application in mass screening of pregnant women in the Russian Federation
47. AGTR2 gene polymorphism is associated with muscle fibre composition, athletic status and aerobic performance
48. National Association of Biobanks and Biobanking Specialists: New Community for Promoting Biobanking Ideas and Projects in Russia
49. 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
50. Pharmacogenetics of Type 2 Diabetes—Progress and Prospects
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.