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Assessing Variants of Uncertain Significance Implicated in Hearing Loss Using a Comprehensive Deafness Proteome.
Tollefson MR, Gogal RA, Weaver AM, Schaefer AM, Marini RJ, Azaiez H, Kolbe DL, Wang D, Weaver AE, Casavant TL, Braun TA, Smith RJH, Schnieders M. Tollefson MR, et al. Among authors: smith rjh. Res Sq [Preprint]. 2023 Feb 1:rs.3.rs-2508462. doi: 10.21203/rs.3.rs-2508462/v1. Res Sq. 2023. Update in: Hum Genet. 2023 Jun;142(6):819-834. doi: 10.1007/s00439-023-02559-9. PMID: 36778238 Free PMC article. Updated. Preprint.
Advances in cochlear gene therapies.
Klimara MJ, Smith RJH. Klimara MJ, et al. Among authors: smith rjh. Curr Opin Pediatr. 2023 Dec 1;35(6):631-640. doi: 10.1097/MOP.0000000000001273. Epub 2023 Jul 6. Curr Opin Pediatr. 2023. PMID: 37417821 Review.
Deafness: from bedside to bench and back.
Smith RJ. Smith RJ. Lancet. 2002 Aug 31;360(9334):656-7. doi: 10.1016/S0140-6736(02)09881-1. Lancet. 2002. PMID: 12241869 No abstract available.
[No title available]
[No authors listed] [No authors listed] PMID: 31698939
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.
Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, Hageman JL, Stockman HA, Borchardt JD, Gehrs KM, Smith RJ, Silvestri G, Russell SR, Klaver CC, Barbazetto I, Chang S, Yannuzzi LA, Barile GR, Merriam JC, Smith RT, Olsh AK, Bergeron J, Zernant J, Merriam JE, Gold B, Dean M, Allikmets R. Hageman GS, et al. Proc Natl Acad Sci U S A. 2005 May 17;102(20):7227-32. doi: 10.1073/pnas.0501536102. Epub 2005 May 3. Proc Natl Acad Sci U S A. 2005. PMID: 15870199 Free PMC article.
388 results