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36 results on '"Holm, Hilma"'

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

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

3. 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

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

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

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

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

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

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

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

11. Genetic architecture of band neutrophil fraction in Iceland

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

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

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

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

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

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

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

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

20. Predicting the probability of death using proteomics

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

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

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

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

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

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

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

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

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

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

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

32. Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation

33. A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

34. A rare missense variant in NR1H4 associates with lower cholesterol levels

35. MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

36. A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.

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