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198 results

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Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ. Shearer AE, et al. Among authors: hildebrand ms. Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25. Am J Hum Genet. 2014. PMID: 25262649 Free PMC article.
Gene expression profiling analysis of the inner ear.
Hildebrand MS, de Silva MG, Klockars T, Campbell CA, Smith RJ, Dahl HH. Hildebrand MS, et al. Hear Res. 2007 Mar;225(1-2):1-10. doi: 10.1016/j.heares.2007.01.015. Epub 2007 Jan 18. Hear Res. 2007. PMID: 17300888 Review.
Clinical aspects of hereditary hearing loss.
Kochhar A, Hildebrand MS, Smith RJ. Kochhar A, et al. Among authors: hildebrand ms. Genet Med. 2007 Jul;9(7):393-408. doi: 10.1097/gim.0b013e3180980bd0. Genet Med. 2007. PMID: 17666886 Free article. Review.
Advances in molecular and cellular therapies for hearing loss.
Hildebrand MS, Newton SS, Gubbels SP, Sheffield AM, Kochhar A, de Silva MG, Dahl HH, Rose SD, Behlke MA, Smith RJ. Hildebrand MS, et al. Mol Ther. 2008 Feb;16(2):224-36. doi: 10.1038/sj.mt.6300351. Epub 2007 Nov 27. Mol Ther. 2008. PMID: 18223547 Free article. Review.
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. 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: hildebrand ms. 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.
198 results