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Showing results 1 to 51 of 204

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
2024A Randomized, Multi-Center, Open Label Study to Compare the Safety and Efficacy between Afatinib Monotherapy and Combination Therapy with HAD-B1 for the Locally Advanced or Metastatic NSCLC Patients with EGFR Mutations이현우
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
2024Age- and ethnic-driven molecular and clinical disparity of East Asian breast cancers안미선
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
2024Clinical application of whole-genome sequencing of solid tumors for precision oncology강석윤, 고영화, 곽규성, 권민석, 김석휘, 김선일, 김세혁, 김장희, 김재근, 김창우, 김철호, 김태환, 노성현, 노진, 노충균, 박지원, 박지은, 백수연, 손상용, 신승수, 안미선, 양민재, 유우식, 윤재성, 이기명, 이길호, 이다근, 이현우, 임선교, 장전엽, 정윤정, 조대성, 최용원, 최진혁, 하태양, 한상욱, 허지미, 허훈
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
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