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Your search keyword '"Gasparini, Paolo"' showing total 19 results

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19 results on '"Gasparini, Paolo"'

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1. Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss

3. Salt-inducible kinase 3, SIK3, is a new gene associated with hearing

4. DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

5. Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

7. Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

8. Trans-ethnic meta-analysis of white blood cell phenotypes

9. Genome-wide association analysis on normal hearing function identifiesPCDH20andSLC28A3as candidates for hearing function and loss

10. Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria

11. Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F

12. Haplotype analysis to determine the position of a mutation among closely linked DNA markers

13. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.

15. Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

16. The p.Cys169Tyr variant of connexin 26 is not a polymorphism

17. DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

18. Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

19. A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.

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