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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: van dooren 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.
Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study.
Fehrmann MLA, Huinck WJ, Thijssen MEG, Haer-Wigman L, Yntema HG, Rotteveel LJC, Widdershoven JCC, Goderie T, van Dooren MF, Hoefsloot EH, van der Schroeff MP, Mylanus EAM; DOOFNL consortium; Lanting CP, Pennings RJE. Fehrmann MLA, et al. Among authors: van dooren mf. J Otolaryngol Head Neck Surg. 2023 Dec 15;52(1):82. doi: 10.1186/s40463-023-00680-3. J Otolaryngol Head Neck Surg. 2023. PMID: 38102706 Free PMC article.
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
Wurfbain LF, Cox IL, van Dooren MF, Lachmeijer AMA, Verhoeven VJM, van Hagen JM, Heijligers M, Klein Wassink-Ruiter JS, Koene S, Maas SM, Veenstra-Knol HE, Ploos van Amstel JK, Massink MPG, Mink van der Molen AB, van den Boogaard MH. Wurfbain LF, et al. Among authors: van dooren mf. Mol Syndromol. 2023 Aug;14(4):270-282. doi: 10.1159/000530256. Epub 2023 Jun 8. Mol Syndromol. 2023. PMID: 37589029 Free PMC article.
Surgical outcomes of gallbladder cancer: the OMEGA retrospective, multicentre, international cohort study.
Balakrishnan A, Barmpounakis P, Demiris N, Jah A, Spiers HVM, Talukder S, Martin JL, Gibbs P, Harper SJF, Huguet EL, Kosmoliaptsis V, Liau SS, Praseedom RK, Basu B, de Aretxabala X, Lendoire J, Maithel S, Branes A, Andersson B, Serrablo A, Adsay V; OMEGA Study Investigators. Balakrishnan A, et al. EClinicalMedicine. 2023 Apr 13;59:101951. doi: 10.1016/j.eclinm.2023.101951. eCollection 2023 May. EClinicalMedicine. 2023. PMID: 37125405 Free PMC article.
80 results