| 2018 | | EGFR Exon 19 Deletion is Associated With Favorable Overall Survival After First-line Gefitinib Therapy in Advanced Non-Small Cell Lung Cancer Patients | 강석윤, 고영화, 박준성, 신승수, 이현우, 정성현, 최용원, 최진혁, 한재호 |
| 2014 | | Exonic variants associated with development of aspirin exacerbated respiratory diseases. | 박해심 |
| 1995 | | Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. | 한시훈 |
| 2004 | | Identification of a novel HLA-B*55 variant (B*5513) from a Korean family. | 박해심 |
| 2021 | | Identification of a novel HLA-C*03:04 allele, HLA-C*03:04:84, in a Korean individual | 박서진 |
| 2010 | | KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect. | 고정민, 황진순 |
| 1996 | | MLL tandem duplication and multiple splicing in adult acute myeloid leukemia with normal karyotype. | 남동기 |
| 2012 | | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | 김현주, 정선용 |
| 2012 | | Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease | 이용희 |
| 2012 | | PAPSS2 mutations cause autosomal recessive brachyolmia | 김옥화 |
| 2001 | | Sequential changes in hepatocarcinogenesis induced by diethylnitrosamine plus thioacetamide in Fischer 344 rats: induction of gankyrin expression in liver fibrosis, pRB degradation in cirrhosis, and methylation of p16(INK4A) exon 1 in hepatocellular carcinoma. | 임인경 |
| 1998 | | Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. | 김현주 |
| 2010 | | The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome. | 고정민 |
| 2012 | | Transgenic mice expressing yellow fluorescent protein under control of the human tyrosine hydroxylase promoter | 이명애 |
| 2021 | | USO1 isoforms differentially promote liver cancer progression by dysregulating the ER-Golgi network | SHAH, MASAUD, 권소미, 우현구, 최지혜 |
