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Showing results 1 to 20 of 20

Publication YearTitleAJOU
Author
2008A case of Birt-Hogg-Dubé syndrome.정선용김현주김유찬
2006A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.김대중이관우김세중정윤석
2000A novel germ line juxtamembrane Met mutation in human gastric cancer.이재호한상욱조혜성
2004A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.주인수허균
2001Activated cAMP-response element-binding protein regulates neuronal expression of presenilin-1.이영돈
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.정윤석김옥화
2009CTLA4 gene polymorphisms and soluble CTLA4 protein in Behcet's disease.이은소
2009Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits.조성란
2016Diversification of the molecular clockwork for tissue-specific function: insight from a novel Drosophila Clock mutant homologous to a mouse Clock allele조은주김은영
1995Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.한시훈
2010Hypoxic ischemia and proteasome dysfunction alter tau isoform ratio by inhibiting exon 10 splicing.곽병주
2004Identification of a novel HLA-B*55 variant (B*5513) from a Korean family.박해심
2012Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism정선용김현주
2006Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.김현주
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
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