2013 | | Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. | 김옥화 |
2019 | | Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes | 장정훈, 정연훈 |
2011 | | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 김현주, 정선용 |
2018 | | Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder | 김정현, 박찬배, 이영수, 임신영, 정선용 |
2018 | | Identification of genomic aberrations associated with lymph node metastasis in diffuse-type gastric cancer | 김영배, 우현구, 이다근, 최지혜, 한상욱 |
2014 | | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. | 손영배, 정선용 |
2011 | | Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. | 김옥화 |
1998 | | Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. | 조성원, 한시훈 |
2018 | | Identifying candidates for gamma knife radiosurgery among elderly patients with brain metastases | 김세혁, 노태훈, 유남규, 정동환 |
2013 | | IDH1 mutations in oligodendroglial tumors: comparative analysis of direct sequencing, pyrosequencing, immunohistochemistry, nested PCR and PNA-mediated clamping PCR. | 이다근 |
2004 | | IKKgamma inhibits activation of NF-kappaB by NIK. | 이광 |
2024 | | Imatinib in c‑KIT‑mutated metastatic solid tumors: A multicenter trial of Korean Cancer Study Group (UN18‑05 Trial) | 안미선 |
2023 | | Immune profiles according to EGFR mutant subtypes and correlation with PD-1/PD-L1 inhibitor therapies in lung adenocarcinoma | 고영화, 박범희, 이현우, 한재호, 함석진 |
2014 | | Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome). | 손영배 |
2018 | | Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias | 장재락 |
2002 | | Inactivation of human peroxiredoxin I during catalysis as the result of the oxidation of the catalytic site cysteine to cysteine-sulfinic acid. | 황성철 |
2019 | | Increasing Prevalence of Group III Penicillin-Binding Protein 3 Mutations Conferring High-Level Resistance to Beta-Lactams Among Nontypeable Haemophilus influenzae Isolates from Children in Korea | 정현주 |
2019 | | Indoor radon exposure increases tumor mutation burden in never-smoker patients with lung adenocarcinoma | 신승수 |
2007 | | Inducing rigid local structure around the zinc-binding region by hydrophobic interactions enhances the homotrimerization and apoptotic activity of zinc-free TRAIL. | 권명희 |
2016 | | Initial clinical experience with BRAF(V600E) mutation analysis of core-needle biopsy specimens from thyroid nodules | 하은주 |
1997 | | Interaction of human T-cell lymphotropic virus type I Tax, Ets1, and Sp1 in transactivation of the PTHrP P2 promoter. | 최경숙 |
2024 | | Interrupting an IFN- 3-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne | 박용환 |
2019 | | Investigating the Feasibility of Targeted Next-Generation Sequencing to Guide the Treatment of Head and Neck Squamous Cell Carcinoma | 이현우 |
2016 | | KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients | 정용식 |
2024 | | Lazertinib versus Gefitinib as First-Line Treatment for EGFR-mutated Locally Advanced or Metastatic NSCLC: LASER301 Korean Subset | 최진혁 |
2022 | | Longitudinal monitoring by next-generation sequencing of plasma cell-free DNA in ALK rearranged NSCLC patients treated with ALK tyrosine kinase inhibitors | 권민석 |
2015 | | Loss of parkin promotes lipid rafts-dependent endocytosis through accumulating caveolin-1: implications for Parkinson's disease. | 박상면, 조은혜, 주일로, 차선희 |
2015 | | LRRK2 G2019S mutation attenuates microglial motility by inhibiting focal adhesion kinase. | 강호철, 박상면, 조은혜, 주일로 |
2019 | | Makorin 1 is required for Drosophila oogenesis by regulating insulin/Tor signaling | 김은영 |
2018 | | Makorin 1 Regulates Developmental Timing in Drosophila | 김은영, 이해상, 정선용, 황진순 |
2001 | | Methylation of O(6)-methylguanine-DNA methyltransferase gene is associated significantly with K-ras mutation, lymph node invasion, tumor staging, and disease free survival in patients with gastric carcinoma. | 김영배, 백운기, 임인경, 조용관, 한상욱 |
2016 | | MicroRNA Expression Signatures Associated With BRAF-Mutated Versus KRAS-Mutated Colorectal Cancers | 김영배, 서광욱, 이다근, 이현우, 최용원 |
2016 | | Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication | 정성현, 조성란, 한재호 |
2011 | | Mitochondrial DNA mutations in disease and aging. | 박찬배 |
2016 | | Mitochondrial E3 Ubiquitin Protein Ligase 1 Mediates Cigarette Smoke-Induced Endothelial Cell Death and Dysfunction | 김선용 |
2001 | | Mitogen-activated protein kinase signalling in oligodendrocytes: a comparison of primary cultures and CG-4. | 김승업 |
2004 | | Mitotic aberration coupled with centrosome amplification is induced by hepatitis B virus X oncoprotein via the Ras-mitogen-activated protein/extracellular signal-regulated kinase-mitogen-activated protein pathway. | 이재호, 조혜성 |
2003 | | Modulation of the N-type calcium channel gene expression by the alpha subunit of Go. | 김성환, 서해영, 이영돈 |
2023 | | Molecular and Clinical Features of Fluconazole Non-susceptible Candida albicans Bloodstream Isolates Recovered in Korean Multicenter Surveillance Studies | 이위교 |
2021 | | Molecular correlates and nuclear features of encapsulated follicular-patterned thyroid neoplasms | 김장희 |
2019 | | Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte | 박준은, 정현주 |
2012 | | Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations | 박동하, 윤수한, 정선용 |
2018 | | mRNA Expression of SLC5A5 and SLC2A Family Genes in Papillary Thyroid Cancer: An Analysis of The Cancer Genome Atlas | 장전엽 |
2004 | | Mutant p53 protein in the serum of patients with cervical carcinoma: correlation with the level of serum epidermal growth factor receptor and prognostic significance. | 최진혁 |
2005 | | Mutation analysis of the MCM gene in Korean patients with MMA. | 김성환, 박준은, 정조원, 황진순 |
2022 | | Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study | 박서진 |
2013 | | Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. | 김현주, 손영배, 정선용 |
2012 | | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | 김현주, 정선용 |
2018 | | Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics | 장정훈, 정연훈 |
2015 | | Mutations in the Spliceosomal Machinery Genes SRSF2, U2AF1, and ZRSR2 and Response to Decitabine in Myelodysplastic Syndrome. | 박준성 |
2013 | | Mutations of the TATA-binding protein confer enhanced tolerance to hyperosmotic stress in Saccharomyces cerevisiae. | 김완기 |
2006 | | Neuronal nitric oxide synthase (nNOS) modulates the JNK1 activity through redox mechanism: a cGMP independent pathway. | 곽병주 |
2014 | | Non-thermal atmospheric pressure plasma induces apoptosis in oral cavity squamous cell carcinoma: Involvement of DNA-damage-triggering sub-G(1) arrest via the ATM/p53 pathway. | 강성운, 김철호, 신유섭 |
2020 | | Normal presynaptic dopaminergic neurons in corticobasal syndrome with MAPT gene mutation | 박동규, 안영실, 윤정한 |
2000 | | Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia. | 한시훈 |
2004 | | Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia. | 김현주 |
2010 | | Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. | 김옥화 |
2010 | | Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. | 고정민 |
2020 | | Osimertinib for Patients With Non-Small-Cell Lung Cancer Harboring Uncommon EGFR Mutations: A Multicenter, Open-Label, Phase II Trial (KCSG-LU15-09) | 안미선 |
2013 | | Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients. | 김옥화 |