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53 results on '"Holm, Hilma"'

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1. Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency

2. The correlation between CpG methylation and gene expression is driven by sequence variants

3. Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis

4. Sequence variants influencing the regulation of serum IgG subclass levels

5. Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease

6. Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease

7. Predicting the presence of coronary plaques featuring high-risk characteristics using polygenic risk scores and targeted proteomics in patients with suspected coronary artery disease

8. X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements

9. Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination

10. Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis

11. Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

12. Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target

13. Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations

14. Large-scale plasma proteomics comparisons through genetics and disease associations

15. Genetic insights into resting heart rate and its role in cardiovascular disease

16. Physical and cognitive impact following SARS-CoV-2 infection in a large population-based case-control study

17. Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

18. Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

19. Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism

20. Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

21. Multiomics study of nonalcoholic fatty liver disease

22. The sequences of 150,119 genomes in the UK Biobank

23. Genetic architecture of band neutrophil fraction in Iceland

24. HLA alleles, disease severity, and age associate with T-cell responses following infection with SARS-CoV-2

25. Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene

26. Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

27. Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

28. The power of genetic diversity in genome-wide association studies of lipids

29. Large-scale integration of the plasma proteome with genetics and disease

30. Distinction between the effects of parental and fetal genomes on fetal growth

31. Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

32. Molecular benchmarks of a SARS-CoV-2 epidemic

33. The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

34. A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo

35. Genetic variants associated with platelet count are predictive of human disease and physiological markers

36. Predicting the probability of death using proteomics

37. Insights into imprinting from parent-of-origin phased methylomes and transcriptomes

38. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

39. Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank

40. Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

41. Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

42. Sequence variants with large effects on cardiac electrophysiology and disease

43. Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

44. Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

45. GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

46. A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

47. Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density

48. Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

49. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

50. Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

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