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Year | Number of Results |
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2006 | 1 |
2011 | 1 |
2016 | 1 |
2024 | 0 |
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Four-year follow-up of diagnostic service in USH1 patients.
Invest Ophthalmol Vis Sci. 2011 Jun 8;52(7):4063-71. doi: 10.1167/iovs.10-6869.
Invest Ophthalmol Vis Sci. 2011.
PMID: 21436283
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration.
Roux AF, et al.
J Med Genet. 2006 Sep;43(9):763-8. doi: 10.1136/jmg.2006.041954. Epub 2006 May 5.
J Med Genet. 2006.
PMID: 16679490
Free PMC article.
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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJH.
Sloan-Heggen CM, et al.
Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.
Hum Genet. 2016.
PMID: 26969326
Free PMC article.
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