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Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).
Pennings RJ, Topsakal V, Astuto L, de Brouwer AP, Wagenaar M, Huygen PL, Kimberling WJ, Deutman AF, Kremer H, Cremers CW. Pennings RJ, et al. Among authors: huygen pl. Otol Neurotol. 2004 Sep;25(5):699-706. doi: 10.1097/00129492-200409000-00009. Otol Neurotol. 2004. PMID: 15353998
Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).
Pennings RJ, Bom SJ, Cryns K, Flothmann K, Huygen PL, Kremer H, Van Camp G, Cremers CW. Pennings RJ, et al. Among authors: huygen pl. Arch Otolaryngol Head Neck Surg. 2003 Apr;129(4):421-6. doi: 10.1001/archotol.129.4.421. Arch Otolaryngol Head Neck Surg. 2003. PMID: 12707188
Usher syndrome type III can mimic other types of Usher syndrome.
Pennings RJ, Fields RR, Huygen PL, Deutman AF, Kimberling WJ, Cremers CW. Pennings RJ, et al. Among authors: huygen pl. Ann Otol Rhinol Laryngol. 2003 Jun;112(6):525-30. doi: 10.1177/000348940311200608. Ann Otol Rhinol Laryngol. 2003. PMID: 12834121
Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.
Pennings RJ, Huygen PL, Orten DJ, Wagenaar M, van Aarem A, Kremer H, Kimberling WJ, Cremers CW, Deutman AF. Pennings RJ, et al. Among authors: huygen pl. Acta Ophthalmol Scand. 2004 Apr;82(2):131-9. doi: 10.1111/j.1600-0420.2004.00234.x. Acta Ophthalmol Scand. 2004. PMID: 15043528 Free article.
255 results