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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2006 | 1 |
2009 | 1 |
2010 | 1 |
2011 | 1 |
2014 | 1 |
2015 | 1 |
2018 | 1 |
2020 | 1 |
2024 | 0 |
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Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1311-7. doi: 10.1167/iovs.09-4085. Epub 2009 Aug 13.
Invest Ophthalmol Vis Sci. 2010.
PMID: 19683999
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
Zhao L, Wang F, Wang H, Li Y, Alexander S, Wang K, Willoughby CE, Zaneveld JE, Jiang L, Soens ZT, Earle P, Simpson D, Silvestri G, Chen R.
Zhao L, et al.
Hum Genet. 2015 Feb;134(2):217-30. doi: 10.1007/s00439-014-1512-7. Epub 2014 Dec 4.
Hum Genet. 2015.
PMID: 25472526
Free PMC article.
Clinical Trial.
Item in Clipboard
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
Garcia-Garcia G, Aparisi MJ, Jaijo T, Rodrigo R, Leon AM, Avila-Fernandez A, Blanco-Kelly F, Bernal S, Navarro R, Diaz-Llopis M, Baiget M, Ayuso C, Millan JM, Aller E.
Garcia-Garcia G, et al.
Orphanet J Rare Dis. 2011 Oct 17;6:65. doi: 10.1186/1750-1172-6-65.
Orphanet J Rare Dis. 2011.
PMID: 22004887
Free PMC article.
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Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
Aller E, Jaijo T, Beneyto M, Nájera C, Oltra S, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Collado D, Pérez-Garrigues H, Navea A, Millán JM.
Aller E, et al.
J Med Genet. 2006 Nov;43(11):e55. doi: 10.1136/jmg.2006.041764.
J Med Genet. 2006.
PMID: 17085681
Free PMC article.
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Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R, Chan L, Oh JK, Cho A, Sparrow JR, Tsang SH.
Jauregui R, et al.
Sci Rep. 2020 Feb 25;10(1):3364. doi: 10.1038/s41598-020-60137-9.
Sci Rep. 2020.
PMID: 32098976
Free PMC article.
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Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.
Huang L, Mao Y, Yang J, Li Y, Li Y, Yang Z.
Huang L, et al.
Eye (Lond). 2018 Oct;32(10):1608-1614. doi: 10.1038/s41433-018-0130-3. Epub 2018 Jun 13.
Eye (Lond). 2018.
PMID: 29899460
Free PMC article.
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