Browsing by Keyword : Exome

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Showing results 1 to 7 of 7

Pub YearTitleAJOU Author(s)
2012A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V김옥화
2014Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.손영배, 정선용
2014Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.이기영, 임신영, 정선용
2014Profiling of exome mutations associated with progression of HBV-related hepatocellular carcinoma.김순선, 안선주, 우현구, 정재연, 조성원, 조효정
2011Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).김옥화
2014Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.정주용
2011Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.김옥화
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