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29 results on '"Benonisdottir, Stefania"'

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1. Mendelian imputation of parental genotypes improves estimates of direct genetic effects

3. Genetic insights into biological mechanisms governing human ovarian ageing

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

5. Correction: Obesity and risk of female reproductive conditions: A Mendelian randomisation study

6. The nature of nurture : Effects of parental genotypes

7. A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

8. Obesity and risk of female reproductive conditions: A Mendelian randomisation study

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

10. Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

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

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

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

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

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

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

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

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

19. Genetic insight into sick sinus syndrome.

20. Deconstructing the sources of genotype-phenotype associations in humans.

21. Sequence variants associating with urinary biomarkers.

22. Identification of Lynch syndrome risk variants in the Romanian population.

23. COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.

24. Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

25. Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation.

26. Epigenetic and genetic components of height regulation.

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

28. A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.

29. Sequence variant at 4q25 near PITX2 associates with appendicitis.

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