173 results on '"Barbitoff, Yury A."'
Search Results
2. Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery
3. Structure and Polymorphism of Amyloid and Amyloid-Like Aggregates
4. Replication of Known and Identification of Novel Associations in Biobank-Scale Datasets: A Survey Using UK Biobank and FinnGen.
5. Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges
6. Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples
7. bioGWAS: A Simple and Flexible Tool for Simulating GWAS Datasets
8. Plasma microRNA Profiling in Type 2 Diabetes Mellitus: A Pilot Study
9. The Effect of Pathogenic Tumor Suppressor Gene Variants on COVID-19: A Report of Three Cases with Varied Severity and Outcomes
10. Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.
11. The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation
12. Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases
13. Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia.
14. bioGWAS: A Simple and Flexible Tool for Simulating GWAS Datasets.
15. Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples.
16. The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
17. P444: SINGLE CELL RNASEQ UNCOVERING THE ROLE OF A LEUKEMIC DRIVER GENE FUSION CBFΒ::MYH11 IN THE LEUKEMIC–NICHE SIGNALING
18. Negligible effects of read trimming on the accuracy of germline short variant calling in the human genome
19. Current Status and Prospects of the Single-Cell Sequencing Technologies for Revealing the Pathogenesis of Pregnancy-Associated Disorders
20. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage
21. Phenome-wide functional dissection of pleiotropic effects highlights key molecular pathways for human complex traits
22. Differential effects of chaperones on yeast prions: CURrent view
23. Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5′UTRs
24. Prospects for biobanking in reproductive health: genetic aspects
25. Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies
26. Aggregation of Genome-Wide Association Data from FinnGen and UK Biobank Replicates Multiple Risk Loci for Pregnancy Complications
27. Processing of Fluorescent Proteins May Prevent Detection of Prion Particles in [PSI+] Cells
28. Genetic and Phenotypic Factors Affecting Glycemic Response to Metformin Therapy in Patients with Type 2 Diabetes Mellitus
29. Overview of Transcriptomic Research on Type 2 Diabetes: Challenges and Perspectives
30. Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review
31. RNA Sequencing of Whole Blood Defines the Signature of High Intensity Exercise at Altitude in Elite Speed Skaters
32. Identification of Genetic Risk Factors of Severe COVID-19 Using Extensive Phenotypic Data: A Proof-of-Concept Study in a Cohort of Russian Patients
33. Additional file 1 of Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery
34. Processing of Fluorescent Proteins May Prevent Detection of Prion Particles in [ PSI + ] Cells.
35. Differential Interactions of Molecular Chaperones and Yeast Prions
36. Gene Amplification as a Mechanism of Yeast Adaptation to Nonsense Mutations in Release Factor Genes
37. Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7,452 exome samples
38. Development of SNP Set for the Marker-Assisted Selection of Guar (Cyamopsis tetragonoloba (L.) Taub.) Based on a Custom Reference Genome Assembly
39. Direct proof of the amyloid nature of yeast prions [PSI+] and [PIN+] by the method of immunoprecipitation of native fibrils
40. RNA sequencing of whole blood defines the signature of high intensity exercise at altitude in elite speed skaters
41. Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery
42. Chromosome-level genome assembly and structural variant analysis of two laboratory yeast strains from the Peterhof Genetic Collection lineage
43. Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing
44. 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
45. Harnessing population-specific protein truncating variants to improve the annotation of loss-of-function alleles
46. A Data-Driven Review of the Genetic Factors of Pregnancy Complications
47. Quantitative assessment of chaperone binding to amyloid aggregates identifies specificity of Hsp40 interaction with yeast prion fibrils
48. Estimation of amyloid aggregate sizes with semi-denaturing detergent agarose gel electrophoresis and its limitations
49. Comparative genomic analysis of Cristatella mucedo provides insights into Bryozoan evolution and nervous system function
50. 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
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