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Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
Am J Med Genet A. 2009 Feb;149A(2):280-5. doi: 10.1002/ajmg.a.32618.
Am J Med Genet A. 2009.
PMID: 19161137
Free PMC article.
No abstract available.
Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.
Hildebrand MS, Tack D, McMordie SJ, DeLuca A, Hur IA, Nishimura C, Huygen P, Casavant TL, Smith RJ.
Hildebrand MS, et al. Among authors: mcmordie sj.
Genet Med. 2008 Nov;10(11):797-804. doi: 10.1097/GIM.0b013e318187e106.
Genet Med. 2008.
PMID: 18941426
Free PMC article.
Item in Clipboard
A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.
Hildebrand MS, DeLuca AP, Taylor KR, Hoskinson DP, Hur IA, Tack D, McMordie SJ, Huygen PL, Casavant TL, Smith RJ.
Hildebrand MS, et al. Among authors: mcmordie sj.
Laryngoscope. 2009 Nov;119(11):2211-5. doi: 10.1002/lary.20664.
Laryngoscope. 2009.
PMID: 19780026
Free PMC article.
Review.
No abstract available.
Item in Clipboard
Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.
Meyer NC, Nishimura CJ, McMordie S, Smith RJ.
Meyer NC, et al.
Clin Genet. 2007 Aug;72(2):130-7. doi: 10.1111/j.1399-0004.2007.00828.x.
Clin Genet. 2007.
PMID: 17661817
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