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Your search keyword '"Benonisdottir, Stefania"' showing total 11 results

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11 results on '"Benonisdottir, Stefania"'

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

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

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

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

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

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

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

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

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

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

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