Browsing by Keyword : Mutation*

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Showing results 1 to 19 of 19

Publication YearTitleAJOU
Author
2009A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.고정민
2006A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.김대중이관우김세중정윤석
2008Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease.용석우
2015Atypical hemolytic uremic syndrome: Korean pediatric series.박세진
2017Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype손영배
2018EGFR Exon 19 Deletion is Associated With Favorable Overall Survival After First-line Gefitinib Therapy in Advanced Non-Small Cell Lung Cancer Patients최용원이현우정성현강석윤박준성최진혁고영화한재호신승수
2009Emergence of adefovir-resistant mutants after reversion to YMDD wild-type in lamivudine-resistant patients receiving adefovir monotherapy.정재연조성원
2010Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.김현주정선용정연훈김유찬
2008Incorporation of deoxyribonucleotides and ribonucleotides by a dNTP-binding cleft mutated reverse transcriptase in hepatitis B virus core particles.박선신호준김경민
2016Initial clinical experience with BRAF(V600E) mutation analysis of core-needle biopsy specimens from thyroid nodules하은주
2016KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients정용식
2005Mutation analysis of the MCM gene in Korean patients with MMA.정조원박준은김성환황진순
2006Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.김현주
2016Pacemaker-neuron-dependent disturbance of the molecular clockwork by a Drosophila CLOCK mutant homologous to the mouse Clock mutation조은주김은영
2017Pan-cancer analysis of systematic batch effects on somatic sequence variations우현구
2019Proteogenomic Characterization of Human Early-Onset Gastric Cancer한상욱
2016Resistance Mechanisms and Clinical Features of Fluconazole-Nonsusceptible Candida tropicalis Isolates Compared with Fluconazole-Less-Susceptible Isolates이위교
2006The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.정선용박상진김현주
1999Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.한시훈정조원홍창호
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