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28 results on '"Holm, Hilma"'

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

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

3. Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

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

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

6. Predicting the probability of death using proteomics.

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

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

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

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

11. Identification of a large set of rare complete human knockouts.

12. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.

13. Identification of low-frequency variants associated with gout and serum uric acid levels.

14. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

15. A rare variant in MYH6 is associated with high risk of sick sinus syndrome.

16. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

17. Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.

18. Several common variants modulate heart rate, PR interval and QRS duration.

19. Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.

20. Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche.

21. Variants conferring risk of atrial fibrillation on chromosome 4q25.

22. A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke.

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

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

25. Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

26. Epigenetic and genetic components of height regulation.

27. Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.

28. Common and rare variants associated with kidney stones and biochemical traits.

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