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The genetic characterization of mendelian ocular disorders in the population of...
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A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variabl...
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Molecular Genetics of Achromatopsia in Newfoundland Reveal Genetic Heterogeneity...
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Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of mu...
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Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is cause...
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