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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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2003 | 1 |
2005 | 1 |
2008 | 1 |
2011 | 4 |
2024 | 0 |
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7 results
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Page 1
Novel mutations in MYO7A and USH2A in Usher syndrome.
Ophthalmic Genet. 2005 Mar;26(1):25-9. doi: 10.1080/13816810590918118.
Ophthalmic Genet. 2005.
PMID: 15823922
Functional analysis of splicing mutations in MYO7A and USH2A genes.
Jaijo T, Aller E, Aparisi MJ, García-García G, Hernan I, Gamundi MJ, Nájera C, Carballo M, Millán JM.
Jaijo T, et al.
Clin Genet. 2011 Mar;79(3):282-8. doi: 10.1111/j.1399-0004.2010.01454.x.
Clin Genet. 2011.
PMID: 20497194
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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Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
Bernal S, Ayuso C, Antiñolo G, Gimenez A, Borrego S, Trujillo MJ, Marcos I, Calaf M, Del Rio E, Baiget M.
Bernal S, et al.
J Med Genet. 2003 Jan;40(1):e8. doi: 10.1136/jmg.40.1.e8.
J Med Genet. 2003.
PMID: 12525556
Free PMC article.
No abstract available.
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Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.
Sandberg MA, Rosner B, Weigel-DiFranco C, McGee TL, Dryja TP, Berson EL.
Sandberg MA, et al.
Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5532-9. doi: 10.1167/iovs.08-2009. Epub 2008 Jul 18.
Invest Ophthalmol Vis Sci. 2008.
PMID: 18641288
Free PMC article.
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Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.
Saihan Z, Stabej Ple Q, Robson AG, Rangesh N, Holder GE, Moore AT, Steel KP, Luxon LM, Bitner-Glindzicz M, Webster AR.
Saihan Z, et al.
Retina. 2011 Sep;31(8):1708-16. doi: 10.1097/IAE.0b013e31820d3fd1.
Retina. 2011.
PMID: 21487335
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Molecular epidemiology of Usher syndrome in Italy.
Vozzi D, Aaspõllu A, Athanasakis E, Berto A, Fabretto A, Licastro D, Külm M, Testa F, Trevisi P, Vahter M, Ziviello C, Martini A, Simonelli F, Banfi S, Gasparini P.
Vozzi D, et al.
Mol Vis. 2011;17:1662-8. Epub 2011 Jun 22.
Mol Vis. 2011.
PMID: 21738395
Free PMC article.
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