Browsing by Keyword : Exons

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Showing results 1 to 26 of 26

Pub YearTitleAJOU Author(s)
1998A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens.이은소
2000A novel germ line juxtamembrane Met mutation in human gastric cancer.이재호, 조혜성, 한상욱
2004A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.주인수, 허균
2001Activated cAMP-response element-binding protein regulates neuronal expression of presenilin-1.이영돈
2000Assignment of the kinesin family member 4 genes (KIF4A and KIF4B) to human chromosome bands Xq13.1 and 5q33.1 by in situ hybridization.김완기, 김현주, 이영미, 하만준
2011Association of TP53 mutations with stem cell-like gene expression and survival of patients with hepatocellular carcinoma우현구
2004B-cell translocation gene 2 (Btg2) regulates vertebral patterning by modulating bone morphogenetic protein/smad signaling.임인경
2013Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.손영배
2013Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.김옥화, 정윤석
2019Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis손영배, 장주영
2016Diversification of the molecular clockwork for tissue-specific function: insight from a novel Drosophila Clock mutant homologous to a mouse Clock allele김은영, 조은주
2018EGFR Exon 19 Deletion is Associated With Favorable Overall Survival After First-line Gefitinib Therapy in Advanced Non-Small Cell Lung Cancer Patients강석윤, 고영화, 박준성, 신승수, 이현우, 정성현, 최용원, 최진혁, 한재호
2014Exonic variants associated with development of aspirin exacerbated respiratory diseases.박해심
1995Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.한시훈
2004Identification of a novel HLA-B*55 variant (B*5513) from a Korean family.박해심
2021Identification of a novel HLA-C*03:04 allele, HLA-C*03:04:84, in a Korean individual박서진
2010KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect.고정민, 황진순
1996MLL tandem duplication and multiple splicing in adult acute myeloid leukemia with normal karyotype.남동기
2012Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism김현주, 정선용
2012Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease이용희
2012PAPSS2 mutations cause autosomal recessive brachyolmia김옥화
2001Sequential 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
1998Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.김현주
2010The 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
2012Transgenic mice expressing yellow fluorescent protein under control of the human tyrosine hydroxylase promoter이명애
2021USO1 isoforms differentially promote liver cancer progression by dysregulating the ER-Golgi networkSHAH, MASAUD, 권소미, 우현구, 최지혜
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