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The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW; DOOFNL Consortium; Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ. Colbert BM, et al. Among authors: smith rjh. Hum Genet. 2024 May;143(5):721-734. doi: 10.1007/s00439-024-02648-3. Epub 2024 Apr 30. Hum Genet. 2024. PMID: 38691166 Free PMC article.
Congenital Cytomegalovirus Testing Outcomes From the ValEAR Trial.
Orb QT, Pesch M, Allen CM, Wilkes A, Ahmad I, Alfonso K, Antonio SM, Mithal LB, Brinkmeier JV, Carvalho D, Chan D, Cheng AG, Chi D, Cohen M, Discolo CM, Duran C, Germiller J, Gibson L, Grunstein E, Harrison G, Lee K, Hawley K, Kohlhoff S, Melvin A, MacArthur C, Nassar M, Neff L, Pecha P, Salvatore C, Schoem S, Virgin F, Saunders J, Schleiss M, Smith RJH, Sood S, Park AH. Orb QT, et al. Among authors: smith rjh. Otolaryngol Head Neck Surg. 2024 May;170(5):1430-1441. doi: 10.1002/ohn.670. Epub 2024 Feb 28. Otolaryngol Head Neck Surg. 2024. PMID: 38415855
Renin and renin blockade have no role in complement activity.
Zhang Y, Martin B, Spies MA, Roberts SM, Nott J, Goodfellow RX, Nelson AFM, Blain SJ, Redondo E, Nester CM, Smith RJH. Zhang Y, et al. Among authors: smith rjh. Kidney Int. 2024 Feb;105(2):328-337. doi: 10.1016/j.kint.2023.11.005. Epub 2023 Nov 25. Kidney Int. 2024. PMID: 38008161 Free article.
Genetic Hearing Loss Overview.
Shearer AE, Hildebrand MS, Schaefer AM, Smith RJH. Shearer AE, et al. Among authors: smith rjh. 1999 Feb 14 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Feb 14 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301607 Free Books & Documents. Review.
GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss.
Smith RJH, Azaiez H, Booth K. Smith RJH, et al. 1998 Sep 28 [updated 2023 Jul 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1998 Sep 28 [updated 2023 Jul 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301449 Free Books & Documents. Review.
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.
381 results