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Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
Hildebrand MS, Tack D, Deluca A, Hur IA, Van Rybroek JM, McMordie SJ, Muilenburg A, Hoskinson DP, Van Camp G, Pensak ML, Storper IS, Huygen PL, Casavant TL, Smith RJ. Hildebrand MS, et al. Among authors: smith rj. 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.
Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21.
Greinwald JH Jr, Scott DA, Marietta JR, Carmi R, Manaligod J, Ramesh A, Zbar RI, Kraft ML, Elbedour K, Yairi Y, Musy M, Skvorak AB, Van Camp G, Srisailapathy CR, Lovett M, Morton CC, Sheffield VC, Smith RJ. Greinwald JH Jr, et al. Among authors: smith rj. Genome Res. 1997 Sep;7(9):879-86. doi: 10.1101/gr.7.9.879. Genome Res. 1997. PMID: 9314493 Free article.
Localization of a gene for otosclerosis to chromosome 15q25-q26.
Tomek MS, Brown MR, Mani SR, Ramesh A, Srisailapathy CR, Coucke P, Zbar RI, Bell AM, McGuirt WT, Fukushima K, Willems PJ, Van Camp G, Smith RJ. Tomek MS, et al. Among authors: smith rj. Hum Mol Genet. 1998 Feb;7(2):285-90. doi: 10.1093/hmg/7.2.285. Hum Mol Genet. 1998. PMID: 9425236
Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.
Chen AH, Mueller RF, Prasad SD, Greinwald JH Jr, Manaligod J, Muilenburg AC, Verhoeven K, Van Camp G, Smith RJ. Chen AH, et al. Among authors: smith rj. Arch Otolaryngol Head Neck Surg. 1998 Jan;124(1):20-4. doi: 10.1001/archotol.124.1.20. Arch Otolaryngol Head Neck Surg. 1998. PMID: 9440775 Review.
2,310 results