Publications
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Filters: Keyword is Exons and Author is Li, Yumei [Clear All Filters]
Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011 ;17:3529-40.
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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet. 2014 ;133(3):331-45.
. NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018 ;173:32-43.
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