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Audiology & Neuro-Otology|December 17, 2003
Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutationsRonald J E Pennings, Patrick L M Huygen, Jody M W van den Ouweland, et al.
European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery|November 7, 2009
Quality of life after gamma knife radiosurgery treatment in patients with a vestibular schwannoma: the patient's perspectiveFerdinand C A Timmer, Anniek E P van Haren, Jef J S Mulder, et al.
The Annals of Otology, Rhinology, and Laryngology|January 22, 2011
Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A geneHenricus G X M Thomeer, Tom T H Crins, Erik J Kamsteeg, et al.
BMC Medical Genomics|May 13, 2009
Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesisErik F Hensen, Jelle J Goeman, Jan Oosting, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|April 28, 2006
The phenotype of the first otosclerosis family linked to OTSC5Robert J Pauw, Els M R De Leenheer, Kris Van Den Bogaert, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|September 23, 2003
Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian familyFrancois X Lemaire, Louw Feenstra, Patrick L M Huygen, et al.
American Journal of Human Genetics|March 12, 2004
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type IIErwin van Wijk, Ronald J E Pennings, Heleen te Brinke, et al.
Human Mutation|July 12, 2002
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairmentGuy Van Camp, Paul J Coucke, Jiro Akita, et al.
Acta Ophthalmologica Scandinavica|March 27, 2004
Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2aRonald J E Pennings, Patrick L M Huygen, Dana J Orten, et al.
Archives of Otolaryngology--Head & Neck Surgery|March 17, 2004
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairmentMartijn H Kemperman, Els M R De Leenheer, Patrick L M Huygen, et al.
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