Browsing by Keyword : Mutation

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Showing results 1 to 51 of 200

Pub YearTitleAJOU Author(s)
1997A 5-nucleotide insertion in the antithrombin gene causing a quantitative antithrombin deficiency.한시훈
2007A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene김대중, 김현주, 김혜진, 이관우, 정선용, 정윤석
2011A Case of X-Lined Agammaglobulinemia Presenting Recurrent Respiratory Infections박해심, 예영민
2024A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report민제홍, 주인수
2011A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.김옥화
2014A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation박상욱, 손영배, 정선용
2012A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene손영배
2016A multicenter phase II study of sorafenib in combination with erlotinib in patients with advanced non-small cell lung cancer (KCSG-0806)강석윤, 최진혁
2014A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.정주용
2007A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.이상윤
2022Aberrant Notch Signaling Pathway as a Potential Mechanism of Central Precocious Puberty심영석, 이해상, 황진순
2019Abrogation of B-Raf(V600E) induced senescence by FoxM1 expression강석윤, 김장희, 박태준, 최용원
2009Accumulation of labile zinc in neurons and astrocytes in the spinal cords of G93A SOD-1 transgenic mice.곽병주
2007Achondroplasia and enchondromatosis: report of three boys.김옥화
2012Allelic loss of susceptibility loci and the occurrence of BRAF and RAS mutations in patients with familial non-medullary thyroid cancer소의영
2022Amyotrophic lateral sclerosis disease-related mutations disrupt the dimerization of superoxide dismutase 1 - A comparative molecular dynamics simulation studyBasith, Shaherin, 이광
2003Anti-DNA antibodies: aspects of structure and pathogenicity.장영주
2023Aperiodic alternating nystagmus in adult-onset Alexander disease with a novel mutation손영배, 이성준, 이진수, 홍지만
2011Association of TP53 mutations with stem cell-like gene expression and survival of patients with hepatocellular carcinoma우현구
2015Atypical hemolytic uremic syndrome: Korean pediatric series.박세진
2010Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.김옥화
2004B-cell translocation gene 2 (Btg2) regulates vertebral patterning by modulating bone morphogenetic protein/smad signaling.임인경
2004Bcl-x(L) sequesters its C-terminal membrane anchor in soluble, cytosolic homodimers.윤수한
2013Bile acid signal-induced phosphorylation of small heterodimer partner by protein kinase Cζ is critical for epigenomic regulation of liver metabolic genes.최성이
2015BRAF V600E mutation is a useful marker for differentiating Rathke's cleft cyst with squamous metaplasia from papillary craniopharyngioma.김장희
2015BRAF V600E mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas.이다근
2009Calpain-mediated N-cadherin proteolytic processing in brain injury.문창현, 백은주, 이수환, 정이숙
2004Casein kinase II-mediated phosphorylation regulates alpha-synuclein/synphilin-1 interaction and inclusion body formation.이광
2021Caveolin-1 deficiency impairs synaptic transmission in hippocampal neurons박상면
2003Cdk2-dependent phosphorylation of the NF-Y transcription factor and its involvement in the p53-p21 signaling pathway.최경숙
2024Celecoxib and sulindac sulfide elicit anticancer effects on PIK3CA-mutated head and neck cancer cells through endoplasmic reticulum stress, reactive oxygen species, and mitochondrial dysfunction이상윤
2010Cell cycle-regulated expression and subcellular localization of a kinesin-8 member human KIF18B.김완기
2012Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients김구상
2013Characterization of human anti-heat shock protein 60 monoclonal autoantibody Fab fragments in atherosclerosis: genetic and functional analysis.장영주
2013Characterization of mutations in multi- and extensive drug resistance among strains of Mycobacterium tuberculosis clinical isolates in Republic of Korea.황성철
2005Characterization of thiol-specific antioxidant 1 (TSA1) of Candida albicans.김완기
2011Clinical and genetic characteristics of Korean patients with Gaucher disease.김현주, 정선용
2013Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.손영배, 정선용, 진현석
2017Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype손영배
2017Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis손영배
2012Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency김옥화, 손영배
2017Clinicopathologic Characteristics and Mutational Status of Succinate Dehydrogenase Genes in Paraganglioma of the Urinary Bladder: A Multi-Institutional Korean Study권지은
2023Comparison of histological and molecular features of pediatric-type follicular lymphoma and pediatric nodal marginal zone lymphoma한재호
2011Comparison of multiplex restriction fragment mass polymorphism and sequencing analyses for detecting entecavir resistance in chronic hepatitis B.조성원
1995Contribution of B cell subsets to delayed development of MAIDS in xid mice.김완기
1997Correlation between K-ras gene mutation and prognosis of patients with nonsmall cell lung carcinoma.이이형
2000Correlation between structure of Bcl-2 and its inhibitory function of JNK and caspase activity in dopaminergic neuronal apoptosis.진병관
2019CRISPR-Cas9-mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis이기황
2015Cross-strand binding of TFAM to a single mtDNA molecule forms the mitochondrial nucleoid.박찬배
2023Deep brain stimulation in Parkinson disease with valosin-containing protein gene mutation박동규, 윤정한
2024Deep learning–radiomics integrated noninvasive detection of epidermal growth factor receptor mutations in non-small cell lung cancer patients김철호, 노진, 유슬기, 허재성
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