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81,980 results on '"Human Genetics"'

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1. The role of brown adipose tissue in branched-chain amino acid clearance in people

2. A genome-wide spectrum of tandem repeat expansions in 338,963 humans

3. Ancient genomes illuminate Eastern Arabian population history and adaptation against malaria.

4. Multiplexed CRISPR gene editing in primary human islet cells with Cas9 ribonucleoprotein.

6. A noncoding variant confers pancreatic differentiation defect and contributes to diabetes susceptibility by recruiting RXRA.

7. Algorithms for the identification of prevalent diabetes in the All of Us Research Program validated using polygenic scores.

8. Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags.

9. Identification and Functional Investigation of SOX4 as a Novel Gene Underpinning Familial Atrial Fibrillation.

10. Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single‐center study.

11. Association of FTO variants rs9939609 and rs1421085 with elevated sugar and fat consumption in adult obesity.

12. Lower activity of cholesteryl ester transfer protein (CETP) and the risk of dementia: a Mendelian randomization analysis.

13. Genotypes and phenotypes of capillary malformation–arteriovenous malformation: characterization and correlation analysis.

14. Reiterated Fact-Making: Explaining Transformation and Continuity in Scientific Facts.

15. No association between migraine and HLA alleles in a cohort of 13,210 individuals with migraine from the Danish Blood Donor Study.

16. Re‐analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4‐2 related neurodevelopmental disorder.

17. Productive infection of primary human hepatocytes with SARSCoV-2 induces antiviral and proinflammatory responses.

18. The Politics of Expertise in Genomics Policy and Law.

19. Human embryos harbor complex mosaicism with broad presence of aneuploid cells during early development.

20. Relevance, strategies, and added value of mouse models in androgenetics.

21. Chasing genes at high‐altitude.

22. altAFplotter: a web app for reliable UPD detection in NGS diagnostics.

23. Success rate of rapid DNA technology in kinship analysis for forensic purpose.

24. Monitoring of Electrophysiological Functions in Brain‐on‐a‐Chip and Brain Organoids.

25. Enhancing Missense Variant Pathogenicity Prediction with MissenseNet: Integrating Structural Insights and ShuffleNet-Based Deep Learning Techniques.

26. Analiza copiilor genei SMN2 pentru determinarea tipurilor de amiotrofie spinală musculară (AMS) în rândul pacienților din Republica Moldova: un studiu de cohortă.

27. Consideration of hereditary effects in the radiological protection system: evolution and current status.

28. How could our genetics impact COVID-19 vaccine response?

29. Class II Transactivator Gene (CIITA) Variants Associated with Bare Lymphocyte Syndrome II in a Female Sudanese Patient.

30. Association of FTO variants rs9939609 and rs1421085 with elevated sugar and fat consumption in adult obesity

31. Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations

32. ARF1-related disorder: phenotypic and molecular spectrum.

33. Human genetics influences microbiome composition involved in asthma exacerbations despite inhaled corticosteroid treatment

34. Unnatural selection.

35. THE HUNT FOR STRANGE BEASTS.

36. A preliminary genome‐wide association study of paroxysmal dyskinesia in the Norwich Terrier.

37. Online Mendelian Inheritance in Animals (OMIA): a genetic resource for vertebrate animals.

38. Treatment‐resistant schizophrenia with 22q11.2 deletion and additional genetic defects.

39. No evidence that ACE2 or TMPRSS2 drive population disparity in COVID risks.

40. Human genetics and epigenetics of alcohol use disorder.

41. Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.

42. High-throughput identification of functional regulatory SNPs in systemic lupus erythematosus.

43. Genomic Interactions Between Mycobacterium tuberculosis and Humans.

44. Letter to the editor: A Southern Cone origin rather than Peruvian affinities for ancient Patagonian B2 mitogenomes.

45. Identifying novel risk genes in intracranial aneurysm by integrating human proteomes and genetics.

46. Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations.

47. Assessing genomics confidence and learning needs in Australian nurses and midwives: an educational program evaluation.

48. Diurnal gene expression patterns in retina and choroid distinguish myopia progression from myopia onset.

49. Neutral or Detrimental Effects of TREM2 Agonist Antibodies in Preclinical Models of Alzheimer’s Disease and Multiple Sclerosis.

50. Identification of Stage-Specific microRNAs that Govern the Early Stages of Sequential Oral Oncogenesis by Strategically Bridging Human Genetics with Epigenetics and Utilizing an Animal Model.

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