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2,318 results

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Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.
Lebeko K, Sloan-Heggen CM, Noubiap JJ, Dandara C, Kolbe DL, Ephraim SS, Booth KT, Azaiez H, Santos-Cortez RL, Leal SM, Smith RJ, Wonkam A. Lebeko K, et al. Among authors: smith rj. Clin Genet. 2016 Sep;90(3):288-90. doi: 10.1111/cge.12799. Epub 2016 Jun 1. Clin Genet. 2016. PMID: 27246798 Free PMC article.
Nonsyndromic hearing impairment is associated with a mutation in DFNA5.
Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G. Van Laer L, et al. Among authors: smith rj. Nat Genet. 1998 Oct;20(2):194-7. doi: 10.1038/2503. Nat Genet. 1998. PMID: 9771715
Connexin 26 as a cause of hereditary hearing loss.
McGuirt WT, Smith RJ. McGuirt WT, et al. Among authors: smith rj. Am J Audiol. 1999 Dec;8(2):93-100. doi: 10.1044/1059-0889(1999/016). Am J Audiol. 1999. PMID: 10646192
Autosomal recessive nonsyndromic hearing loss.
Sundstrom RA, Van Laer L, Van Camp G, Smith RJ. Sundstrom RA, et al. Among authors: smith rj. Am J Med Genet. 1999 Sep 24;89(3):123-9. doi: 10.1002/(sici)1096-8628(19990924)89:3<123::aid-ajmg2>3.0.co;2-p. Am J Med Genet. 1999. PMID: 10704186 Review.
Autosomal dominant nonsyndromic hearing impairment.
Van Laer L, McGuirt WT, Yang T, Smith RJ, Van Camp G. Van Laer L, et al. Among authors: smith rj. Am J Med Genet. 1999 Sep 24;89(3):167-74. doi: 10.1002/(sici)1096-8628(19990924)89:3<167::aid-ajmg7>3.3.co;2-m. Am J Med Genet. 1999. PMID: 10704191 Review.
Maternally inherited hearing impairment.
Van Camp G, Smith RJ. Van Camp G, et al. Among authors: smith rj. Clin Genet. 2000 Jun;57(6):409-14. doi: 10.1034/j.1399-0004.2000.570601.x. Clin Genet. 2000. PMID: 10905659 Review.
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.
Van Laer L, Coucke P, Mueller RF, Caethoven G, Flothmann K, Prasad SD, Chamberlin GP, Houseman M, Taylor GR, Van de Heyning CM, Fransen E, Rowland J, Cucci RA, Smith RJ, Van Camp G. Van Laer L, et al. Among authors: smith rj. J Med Genet. 2001 Aug;38(8):515-8. doi: 10.1136/jmg.38.8.515. J Med Genet. 2001. PMID: 11483639 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. Among authors: smith rj. 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.
2,318 results