19 results on '"Benonisdottir, Stefania"'
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2. The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis
3. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis
4. Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis
5. Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures
6. GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures
7. A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy
8. Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density
9. A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis
10. Genome-wide association meta-analysis yields 20 loci associated with gallstone disease
11. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
12. A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin
13. A rare missense variant in NR1H4 associates with lower cholesterol levels
14. COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
15. Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
16. Sequence variant at 4q25 near PITX2 associates with appendicitis
17. Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation
18. Epigenetic and genetic components of height regulation
19. Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase
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