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