Browsing "1. Journal Papers" by Author : 2325

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Issue DateTitleJournal Title
2003A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases HUMAN MOLECULAR GENETICS
2014A newly discovered LGI1 mutation in Korean family with autosomal dominant lateral temporal lobe epilepsySEIZURE-EUROPEAN JOURNAL OF EPILEPSY
2010A nonsynonymous variation in MRP2/ABCC2 is associated with neurological adverse drug reactions of carbamazepine in patients with epilepsy.PHARMACOGENETICS AND GENOMICS
2011A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean childrenJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
2010Association between cystic fibrosis transmembrane conductance regulator gene mutations and susceptibility for childhood asthma in Korea YONSEI MEDICAL JOURNAL
2013Association of genetic variation in chitotriosidase with atopy in Korean childrenANNALS OF ALLERGY ASTHMA & IMMUNOLOGY
2015Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and AtherosclerosisATHEROSCLEROSIS
2007Dynamic regulation of cystic fibrosis transmembrane conductance regulator by competitive interactions of molecular adaptors JOURNAL OF BIOLOGICAL CHEMISTRY
2012EGFR polymorphism as a predictor of clinical outcome in advanced lung cancer patients treated with EGFR-TKI YONSEI MEDICAL JOURNAL
2015Evaluation of polygenic cause in Korean patients with familial hypercholesterolemia - A study supported by Korean Society of Lipidology and AtherosclerosisATHEROSCLEROSIS
2005Gene SNPs and mutations in clinical genetic testing: Haplotype-based testing and analysisMUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
2015Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing PLOS ONE
2009Genetic variation in the promoter region of chitinase 3-like 1 is associated with atopy.AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
2013Genetic Variations of ABCC2 Gene Associated with Adverse Drug Reactions to Valproic Acid in Korean Epileptic Patients Genomics & Informatics
2015GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsyEPILEPSY RESEARCH
2015Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis PLOS ONE
2014Identification of somatic mutations in EGFR/KRAS/ALK-negative lung adenocarcinoma in never-smokers GENOME MEDICINE
2004Inhibitory regulation of cystic fibrosis transmembrane conductance regulator anion-transporting activities by Shank2 JOURNAL OF BIOLOGICAL CHEMISTRY
2015microDuMIP: target-enrichment technique for microarray-based duplex molecular inversion probes NUCLEIC ACIDS RESEARCH
2010MRP1 polymorphisms associated with citalopram response in patients with major depressionJOURNAL OF CLINICAL PSYCHOPHARMACOLOGY
2007MRP2 haplotypes confer differential susceptibility to toxic liver injuryPHARMACOGENETICS AND GENOMICS
2013Pharmacogenetic determinants associated with sunitinib-induced toxicity and ethnic difference in Korean metastatic renal cell carcinoma patientsCANCER CHEMOTHERAPY AND PHARMACOLOGY
2013Pharmacogenomic Assessment of Outcomes of Pemetrexed-Treated Patients with Adenocarcinoma of the Lung YONSEI MEDICAL JOURNAL
2015Phase II clinical and exploratory biomarker study of dacomitinib in patients with recurrent and/or metastatic squamous cell carcinoma of head and neckCLINICAL CANCER RESEARCH
2013Proximal Dominant Hereditary Motor and Sensory Neuropathy With Proximal Dominance Association With Mutation in the TRK-Fused GeneJAMA NEUROLOGY
2012Regulation of SLC26A3 activity by NHERF4 PDZ-mediated interactionCELLULAR SIGNALLING
2010Selective inhibition of MDR1 (ABCB1) by HM30181 increases oral bioavailability and therapeutic efficacy of paclitaxel.EUROPEAN JOURNAL OF PHARMACOLOGY
2015Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathyNEUROMUSCULAR DISORDERS
2010The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis JOURNAL OF KOREAN MEDICAL SCIENCE
2014Whole-Genome Analysis in Korean Patients with Autoimmune Myasthenia Gravis YONSEI MEDICAL JOURNAL
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