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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 1 |
2013 | 2 |
2014 | 1 |
2015 | 1 |
2016 | 1 |
2024 | 0 |
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eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease.
Curr Opin Ophthalmol. 2012 Sep;23(5):355-63. doi: 10.1097/ICU.0b013e32835715c9.
Curr Opin Ophthalmol. 2012.
PMID: 22847030
Free PMC article.
Review.
Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.
Huynh N, Jeffrey BG, Turriff A, Sieving PA, Cukras CA.
Huynh N, et al.
Ophthalmic Genet. 2014 Mar;35(1):51-6. doi: 10.3109/13816810.2013.865762. Epub 2014 Jan 7.
Ophthalmic Genet. 2014.
PMID: 24397708
Free PMC article.
Item in Clipboard
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.
Sullivan LS, Bowne SJ, Reeves MJ, Blain D, Goetz K, Ndifor V, Vitez S, Wang X, Tumminia SJ, Daiger SP.
Sullivan LS, et al.
Invest Ophthalmol Vis Sci. 2013 Sep 19;54(9):6255-61. doi: 10.1167/iovs.13-12605.
Invest Ophthalmol Vis Sci. 2013.
PMID: 23950152
Free PMC article.
Item in Clipboard
Sample Confirmation Testing: A Short Tandem Repeat-Based Quality Assurance and Quality Control Procedure for the eyeGENE Biorepository.
Parrish RS, Garafalo AV, Ndifor V, Goetz KE, Reeves MJ, Yim A, Cooper RC, Iano-Fletcher J, Wang X, Tumminia SJ.
Parrish RS, et al.
Biopreserv Biobank. 2016 Apr;14(2):149-55. doi: 10.1089/bio.2015.0098. Epub 2016 Feb 18.
Biopreserv Biobank. 2016.
PMID: 26891080
Free PMC article.
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Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.
Bowne SJ, Sullivan LS, Avery CE, Sasser EM, Roorda A, Duncan JL, Wheaton DH, Birch DG, Branham KE, Heckenlively JR, Sieving PA, Daiger SP.
Bowne SJ, et al.
Mol Vis. 2013 Nov 24;19:2407-17. eCollection 2013.
Mol Vis. 2013.
PMID: 24319334
Free PMC article.
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ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
Xu M, Gelowani V, Eblimit A, Wang F, Young MP, Sawyer BL, Zhao L, Jenkins G, Creel DJ, Wang K, Ge Z, Wang H, Li Y, Hartnett ME, Chen R.
Xu M, et al.
Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3889-95. doi: 10.1167/iovs.15-16778.
Invest Ophthalmol Vis Sci. 2015.
PMID: 26070061
Free PMC article.
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