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A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
de Kok YJ, Bom SJ, Brunt TM, Kemperman MH, van Beusekom E, van der Velde-Visser SD, Robertson NG, Morton CC, Huygen PL, Verhagen WI, Brunner HG, Cremers CW, Cremers FP. de Kok YJ, et al. Among authors: brunner hg. Hum Mol Genet. 1999 Feb;8(2):361-6. doi: 10.1093/hmg/8.2.361. Hum Mol Genet. 1999. PMID: 9931344
Presymptomatic diagnosis of myotonic dystrophy.
Brunner HG, Nillesen W, van Oost BA, Jansen G, Wieringa B, Ropers HH, Smeets HJ. Brunner HG, et al. J Med Genet. 1992 Nov;29(11):780-4. doi: 10.1136/jmg.29.11.780. J Med Genet. 1992. PMID: 1453426 Free PMC article.
Molecular genetics of X-linked hearing impairment.
Brunner HG, Smeets B, Smeets D, Nelen M, Cremers CW, Ropers HH. Brunner HG, et al. Ann N Y Acad Sci. 1991;630:176-90. doi: 10.1111/j.1749-6632.1991.tb19586.x. Ann N Y Acad Sci. 1991. PMID: 1683204 Review. No abstract available.
498 results