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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: pennings rje. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Hearing impairment in Usher syndrome type II.
Pennings RJ, Huygen PL, Cremers WR. Pennings RJ, et al. Ann Otol Rhinol Laryngol. 2003 Sep;112(9 Pt 1):825. doi: 10.1177/000348940311200915. Ann Otol Rhinol Laryngol. 2003. PMID: 14535570 No abstract available.
Hearing Rehabilitation with Active Middle Ear Implants.
Donnelly NP, Pennings RJE. Donnelly NP, et al. Among authors: pennings rje. Adv Otorhinolaryngol. 2018;81:43-56. doi: 10.1159/000485529. Epub 2018 Apr 6. Adv Otorhinolaryngol. 2018. PMID: 29794434 Review.
Cervical dystonia after ear surgery.
van Gaalen J, Pennings RJ, Beynon AJ, Münchau A, Bloem BR, van de Warrenburg BP. van Gaalen J, et al. Parkinsonism Relat Disord. 2012 Jun;18(5):669-71. doi: 10.1016/j.parkreldis.2011.10.004. Epub 2011 Oct 22. Parkinsonism Relat Disord. 2012. PMID: 22018913
Molecular characterization of WFS1 in patients with Wolfram syndrome.
van ven Ouweland JM, Cryns K, Pennings RJ, Walraven I, Janssen GM, Maassen JA, Veldhuijzen BF, Arntzenius AB, Lindhout D, Cremers CW, Van Camp G, Dikkeschei LD. van ven Ouweland JM, et al. J Mol Diagn. 2003 May;5(2):88-95. doi: 10.1016/s1525-1578(10)60457-6. J Mol Diagn. 2003. PMID: 12707373 Free PMC article.
117 results