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Cordova: web-based management of genetic variation data.
Ephraim SS, Anand N, DeLuca AP, Taylor KR, Kolbe DL, Simpson AC, Azaiez H, Sloan CM, Shearer AE, Hallier AR, Casavant TL, Scheetz TE, Smith RJ, Braun TA. Ephraim SS, et al. Among authors: smith rj. Bioinformatics. 2014 Dec 1;30(23):3438-9. doi: 10.1093/bioinformatics/btu539. Epub 2014 Aug 14. Bioinformatics. 2014. PMID: 25123904 Free PMC article.
In reference to temporal bone imaging in GJB2 deafness.
Azaiez H, Smith RJ. Azaiez H, et al. Among authors: smith rj. Laryngoscope. 2007 Jun;117(6):1127; author reply 1127-9. doi: 10.1097/MLG.0b013e3180421729. Laryngoscope. 2007. PMID: 17545875 No abstract available.
Genotype-phenotype correlations for SLC26A4-related deafness.
Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ. Azaiez H, et al. Among authors: smith rj. Hum Genet. 2007 Dec;122(5):451-7. doi: 10.1007/s00439-007-0415-2. Epub 2007 Aug 10. Hum Genet. 2007. PMID: 17690912 Free PMC article.
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.
A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.
Shearer AE, Hildebrand MS, Bromhead CJ, Kahrizi K, Webster JA, Azadeh B, Kimberling WJ, Anousheh A, Nazeri A, Stephan D, Najmabadi H, Smith RJ, Bahlo M. Shearer AE, et al. Among authors: smith rj. Am J Med Genet A. 2009 Mar;149A(3):555-8. doi: 10.1002/ajmg.a.32670. Am J Med Genet A. 2009. PMID: 19215054 Free PMC article. No abstract available.
2,290 results