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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: bossuyt pj. Nat Genet. 1998 Oct;20(2):194-7. doi: 10.1038/2503. Nat Genet. 1998. PMID: 9771715
Positional cloning of a gene involved in hereditary multiple exostoses.
Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul EV, De Boulle K, de Vries BB, Hendrickx J, Herrygers I, Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, van den Ouweland AM, McGaughran J, Halley DJ, Willems PJ. Wuyts W, et al. Among authors: bossuyt p. Hum Mol Genet. 1996 Oct;5(10):1547-57. doi: 10.1093/hmg/5.10.1547. Hum Mol Genet. 1996. PMID: 8894688
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).
Holinski-Feder E, Reyniers E, Uhrig S, Golla A, Wauters J, Kroisel P, Bossuyt P, Rost I, Jedele K, Zierler H, Schwab S, Wildenauer D, Speicher MR, Willems PJ, Meitinger T, Kooy RF. Holinski-Feder E, et al. Among authors: bossuyt p. Am J Hum Genet. 2000 Jan;66(1):16-25. doi: 10.1086/302703. Am J Hum Genet. 2000. PMID: 10631133 Free PMC article.
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