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459 results

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Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Stiff HA, Sloan-Heggen CM, Ko A, Pfeifer WL, Kolbe DL, Nishimura CJ, Frees KL, Booth KT, Wang D, Weaver AE, Azaiez H, Kamholz J, Smith RJH, Drack AV. Stiff HA, et al. Among authors: smith rjh. Ophthalmic Genet. 2020 Apr;41(2):151-158. doi: 10.1080/13816810.2020.1747088. Epub 2020 Apr 13. Ophthalmic Genet. 2020. PMID: 32281467 Free PMC article.
Performance of cochlear implant recipients with GJB2-related deafness.
Green GE, Scott DA, McDonald JM, Teagle HF, Tomblin BJ, Spencer LJ, Woodworth GG, Knutson JF, Gantz BJ, Sheffield VC, Smith RJ. Green GE, et al. Am J Med Genet. 2002 May 1;109(3):167-70. doi: 10.1002/ajmg.10330. Am J Med Genet. 2002. PMID: 11977173 Free PMC article.
Genetics of hearing impairment.
Hone SW, Smith RJ. Hone SW, et al. Semin Neonatol. 2001 Dec;6(6):531-41. doi: 10.1053/siny.2001.0094. Semin Neonatol. 2001. PMID: 12014894 Review.
Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).
Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, Murphy BF, Silvestri G, Skerka C, Józsi M, Zipfel PF, Hageman GS, Smith RJ. Abrera-Abeleda MA, et al. J Med Genet. 2006 Jul;43(7):582-9. doi: 10.1136/jmg.2005.038315. Epub 2005 Nov 18. J Med Genet. 2006. PMID: 16299065 Free PMC article.
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.
459 results