Browsing by Keyword : Exome
Showing results 1 to 7 of 7
| Pub Year | | Title | Author(s) |
| 2012 | | A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V | 김옥화 |
| 2014 | | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. | 손영배, 정선용 |
| 2014 | | Identification 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 |
| 2014 | | Profiling of exome mutations associated with progression of HBV-related hepatocellular carcinoma. | 김순선, 안선주, 우현구, 정재연, 조성원, 조효정 |
| 2011 | | Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). | 김옥화 |
| 2014 | | Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA. | 정주용 |
| 2011 | | Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. | 김옥화 |
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