| 2009 | A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. | 고정민 |
| 2017 | A Case of Therapy-Related Acute Leukemia With Mixed Phenotype With BCR-ABL1 After Treatment of Diffuse Large B-Cell Lymphoma | 조성란 |
| 2013 | A genetic effect of IL-5 receptor α polymorphism in patients with aspirin-exacerbated respiratory disease. | 김승현, 신유섭, 예영민, 박해심 |
| 2009 | A hemolytic transfusion reaction due to Anti-Ku antibody in a patient with Knull phenotype: the first case in Korea. | 임영애, 이기명 |
| 2000 | A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case. | 한시훈 |
| 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 |
| 2004 | A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness. | 주인수, 허균 |
| 2011 | A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean children. | 박해심, 김승현 |
| 2016 | AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II | 손영배 |
| 2015 | Adenovirus expressing dual c-Met-specific shRNA exhibits potent antitumor effect through autophagic cell death accompanied by senescence-like phenotypes in glioblastoma cells. | 최경숙 |
| 2003 | Analysis of the phenotypes of Jurkat clones with different TRAIL-sensitivities. | 장영주, 김형일 |
| 2017 | Aspirin-exacerbated respiratory disease: an update | 이지호, 박해심 |
| 2007 | Association between a TGFbeta1 promoter polymorphism and rhinosinusitis in aspirin-intolerant asthmatic patients. | 김승현, 박해심 |
| 2008 | Association between a TGFbeta1 promoter polymorphism and the phenotype of aspirin-intolerant chronic urticaria in a Korean population. | 박한정, 예영민, 김승현, 박해심 |
| 2007 | Association between polymorphisms in prostanoid receptor genes and aspirin-intolerant asthma. | 김승현, 박해심 |
| 2016 | Association between the CpG island methylator phenotype and its prognostic significance in primary pulmonary adenocarcinoma | 고영화 |
| 2016 | Association of autophagy related gene polymorphisms with neutrophilic airway inflammation in adult asthma | 김승현, 신유섭, 예영민 |
| 2009 | Association of CRTH2 gene polymorphisms with the required dose of antihistamines in patients with chronic urticaria. | 김승현, 예영민, 박해심 |
| 2014 | Association of serum periostin with aspirin-exacerbated respiratory disease. | 반가영, 유혜수, 신유섭, 예영민, 남동호, 박해심 |
| 2008 | Association of specific IgE to staphylococcal superantigens with the phenotype of chronic urticaria. | 예영민, 박한정, 김승현, 박해심 |
| 2010 | Association of the CCR3 gene polymorphism with aspirin exacerbated respiratory disease. | 김승현, 최길순, 예영민, 박해심 |
| 2011 | Association of thromboxane A2 receptor (TBXA2R) gene polymorphism in patients with aspirin-intolerant acute urticaria. | 김승현, 김주희, 예영민, 박해심 |
| 2005 | Association of thromboxane A2 receptor gene polymorphism with the phenotype of acetyl salicylic acid-intolerant asthma. | 김승현, 박해심 |
| 2015 | Association of TNFSF15 polymorphisms in Korean children with Crohn's disease. | 장주영 |
| 2010 | Association of vascular endothelial growth factor polymorphisms with nonproliferative and proliferative diabetic retinopathy. | 이관우 |
| 1997 | Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome. | 김옥화 |
| 2010 | Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. | 김옥화 |
| 2004 | Bcl-xL and E1B-19K proteins inhibit p53-induced irreversible growth arrest and senescence by preventing reactive oxygen species-dependent p38 activation. | 최경숙 |
| 2003 | Bone morphogenetic protein-2 facilitates expression of chondrogenic, not osteogenic, phenotype of human intervertebral disc cells. | 한경진 |
| 2009 | C-reactive protein gene polymorphisms in disease susceptibility and clinical manifestations of Korean systemic lupus erythematosus. | 김현아, 김승현, 박해심, 서창희 |
| 2018 | Can persistent organic pollutants distinguish between two opposite metabolic phenotypes in lean Koreans? | 김대중, 하경화 |
| 2016 | CD11c is upregulated in CD8+ T cells of patients with Behcet's disease | 박영준, 박선, 이은소 |
| 2005 | Centrosome amplification and multinuclear phenotypes are Induced by hydrogen peroxide. | 이재호, 조혜성 |
| 2013 | Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1. | 임신영, 손영배 |
| 2011 | Clinical and genetic characteristics of Korean patients with Gaucher disease. | 정선용, 김현주 |
| 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 |
| 2011 | Combination of multifaceted strategies to maximize the therapeutic benefits of neural stem cell transplantation for spinal cord repair. | 황동훈, 주인수, 김병곤 |
| 2006 | Cysteinyl leukotriene receptor 1 promoter polymorphism is associated with aspirin-intolerant asthma in males. | 김승현, 서창희, 남동호, 박해심 |
| 2007 | Differential contribution of the CysLTR1 gene in patients with aspirin hypersensitivity. | 김승현, 박해심 |
| 2017 | Discoidin domain receptor 1 activity drives an aggressive phenotype in gastric carcinoma | 허훈, 이다근, 한상욱, 권지은, 김영배 |
| 2015 | Downregulation of PEA-15 reverses G1 arrest, and nuclear and chromatin changes of senescence phenotype via pErk1/2 translocation to nuclei. | 임인경 |
| 2014 | Emphysematous phenotype is an independent predictor for frequent exacerbation of COPD. | 신승수, 박주헌 |
| 2004 | Endophilin B1 is required for the maintenance of mitochondrial morphology. | 정선용 |
| 2018 | Factors affecting quality of life in patients with vitiligo: a nationwide study | 김유찬, 강희영 |
| 2014 | First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1. | 손영배 |
| 2006 | Formation of elongated giant mitochondria in DFO-induced cellular senescence: involvement of enhanced fusion process through modulation of Fis1. | 임인경, 윤수한, 윤계순 |
| 2015 | From cell senescence to age-related diseases: differential mechanisms of action of senescence-associated secretory phenotypes. | 변해옥, 이영경, 윤계순 |
| 2013 | Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study. | 진현석, 정윤석 |
| 2011 | Genetic basis of congenital and infantile nephrotic syndromes. | 배기수 |
| 2013 | Genomic copy number alterations with transcriptional deregulation at 6p identify an aggressive HCC phenotype. | 최용준, 강호철, 이수환, 백은주, 우현구 |
| 2009 | Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis. | 유재은, 정선용, 박문성, 김현주, 윤수한 |
| 2002 | Hrp3, a chromodomain helicase/ATPase DNA binding protein, is required for heterochromatin silencing in fission yeast. | 이명애 |
| 2017 | Identification and Functional Characterization of ST3GAL5 and ST8SIA1 Variants in Patients with Thyroid-Associated Ophthalmopathy | 국경훈 |
| 2010 | Identification of a cholangiocarcinoma-like gene expression trait in hepatocellular carcinoma. | 우현구 |
| 2011 | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 정선용, 김현주 |
| 2013 | Identification of asthma clusters in two independent Korean adult asthma cohorts. | 남동호 |
| 2018 | Identification of five novel genetic loci related to facial morphology by genome-wide association studies | 조남한 |
| 2010 | Immunoglobulin G subclass deficiency is the major phenotype of primary immunodeficiency in a Korean adult cohort. | 김주희, 최길순, 김정은, 예영민, 남동호, 박해심 |
| 2014 | Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome). | 손영배 |
