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Human Mutation|January 30, 2008
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA bindingRob W J Collin, Ramesh Chellappa, Robert-Jan Pauw, et al.
Science (New York, N.Y.)|July 25, 2009
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paragangliomaHuai-Xiang Hao, Oleh Khalimonchuk, Margit Schraders, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|June 22, 2019
Hearing Results of Surgery for Acquired Atresia of the External Auditory CanalJoost J A Stultiens, Patrick L M Huygen, Anne M M Oonk, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|July 5, 2011
Stability, survival, and tolerability of a novel baha implant system: six-month data from a multicenter clinical investigationCatharina A J Dun, Maarten J F de Wolf, Myrthe K S Hol, et al.
Audiology & Neuro-Otology|December 17, 2003
A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluationAnne M L C Bischoff, Mirjam W J Luijendijk, Patrick L M Huygen, et al.
American Journal of Human Genetics|December 14, 2011
Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humansIlse Feenstra, Lisenka E L M Vissers, Ronald J E Pennings, et al.
International Journal of Pediatric Otorhinolaryngology|September 11, 2010
International consensus on Vibrant Soundbridge® implantation in children and adolescentsCor W R J Cremers, Alec Fitzgerald O'Connor, Jan Helms, et al.
Hearing Research|June 19, 2016
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIaBas P Hartel, Maria Löfgren, Patrick L M Huygen, et al.
Human Molecular Genetics|October 2, 2008
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like proteinErwin van Wijk, Ferry F J Kersten, Aileen Kartono, et al.
The Journal of Molecular Diagnostics : JMD|April 23, 2003
Molecular characterization of WFS1 in patients with Wolfram syndromeJohannes M W van ven Ouweland, Kim Cryns, Ronald J E Pennings, et al.
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