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84 results

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Page 1
Gene therapy for hearing loss.
Omichi R, Shibata SB, Morton CC, Smith RJH. Omichi R, et al. Hum Mol Genet. 2019 Oct 1;28(R1):R65-R79. doi: 10.1093/hmg/ddz129. Hum Mol Genet. 2019. PMID: 31227837 Free PMC article. Review.
Congenital hearing loss.
Korver AM, Smith RJ, Van Camp G, Schleiss MR, Bitner-Glindzicz MA, Lustig LR, Usami SI, Boudewyns AN. Korver AM, et al. Nat Rev Dis Primers. 2017 Jan 12;3:16094. doi: 10.1038/nrdp.2016.94. Nat Rev Dis Primers. 2017. PMID: 28079113 Free PMC article. Review.
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H, Booth KT, Ephraim SS, Crone B, Black-Ziegelbein EA, Marini RJ, Shearer AE, Sloan-Heggen CM, Kolbe D, Casavant T, Schnieders MJ, Nishimura C, Braun T, Smith RJH. Azaiez H, et al. Am J Hum Genet. 2018 Oct 4;103(4):484-497. doi: 10.1016/j.ajhg.2018.08.006. Epub 2018 Sep 20. Am J Hum Genet. 2018. PMID: 30245029 Free PMC article.
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJH. Sloan-Heggen CM, et al. Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11. Hum Genet. 2016. PMID: 26969326 Free PMC article.
The Epidemiology of Deafness.
Sheffield AM, Smith RJH. Sheffield AM, et al. Cold Spring Harb Perspect Med. 2019 Sep 3;9(9):a033258. doi: 10.1101/cshperspect.a033258. Cold Spring Harb Perspect Med. 2019. PMID: 30249598 Free PMC article. Review.
Advances in cochlear gene therapies.
Klimara MJ, Smith RJH. Klimara MJ, et al. 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.
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H. Sloan-Heggen CM, et al. J Med Genet. 2015 Dec;52(12):823-9. doi: 10.1136/jmedgenet-2015-103389. Epub 2015 Oct 7. J Med Genet. 2015. PMID: 26445815 Free PMC article.
84 results