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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: smeal m. 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.
Genetics and the Individualized Therapy of Vestibular Disorders.
Mei C, Dong H, Nisenbaum E, Thielhelm T, Nourbakhsh A, Yan D, Smeal M, Lundberg Y, Hoffer ME, Angeli S, Telischi F, Nie G, Blanton SH, Liu X. Mei C, et al. Among authors: smeal m. Front Neurol. 2021 Feb 5;12:633207. doi: 10.3389/fneur.2021.633207. eCollection 2021. Front Neurol. 2021. PMID: 33613440 Free PMC article. Review.
28 results