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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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2018 | 1 |
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Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.
JAMA Ophthalmol. 2017 Dec 1;135(12):1376-1385. doi: 10.1001/jamaophthalmol.2017.4859.
JAMA Ophthalmol. 2017.
PMID: 29145603
Free PMC article.
Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement.
Jiang Y, Li S, Xiao X, Sun W, Zhang Q.
Jiang Y, et al.
Invest Ophthalmol Vis Sci. 2021 Aug 2;62(10):23. doi: 10.1167/iovs.62.10.23.
Invest Ophthalmol Vis Sci. 2021.
PMID: 34415986
Free PMC article.
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Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.
Li J, Leng Y, Han S, Yan L, Lu C, Luo Y, Zhang X, Cao L.
Li J, et al.
Orphanet J Rare Dis. 2018 Jun 18;13(1):94. doi: 10.1186/s13023-018-0828-0.
Orphanet J Rare Dis. 2018.
PMID: 29914532
Free PMC article.
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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA, FitzPatrick DR.
Williamson KA, et al.
Genet Med. 2020 Mar;22(3):598-609. doi: 10.1038/s41436-019-0685-9. Epub 2019 Nov 8.
Genet Med. 2020.
PMID: 31700164
Free PMC article.
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