| 2015 | | Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome. | 손영배 |
| 2011 | | SCA in Korea and its regional distribution: a multicenter analysis. | 김현주, 용석우 |
| 2020 | | Scopolin Attenuates Osteoporotic Bone Loss in Ovariectomized Mice | 김정현, 박은국, 정선용 |
| 2020 | | Scopolin Prevents Adipocyte Differentiation in 3T3-L1 Preadipocytes and Weight Gain in an Ovariectomy-Induced Obese Mouse Model | 김정현, 박은국, 이창근, 정선용 |
| 2016 | | Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization | 손영배 |
| 2021 | | Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome | 손영배 |
| 2007 | | Spinocerebellar ataxia 7 (SCA7) | 김현주, 정선용 |
| 2017 | | STRA6 as a possible candidate gene for pathogenesis of osteoporosis from RNAseq analysis of human mesenchymal stem cells | 원예연, 정선용, 정윤석, 최용준 |
| 2011 | | Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome | 김현주 |
| 1998 | | Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. | 김현주 |
| 2016 | | Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures. | 손영배 |
| 2018 | | Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11 | 박규정, 손영배, 이해상, 황진순 |
| 2019 | | Synergistic Neuroprotective Effect of Schisandra chinensis and Ribes fasciculatum on Neuronal Cell Death and Scopolamine-Induced Cognitive Impairment in Rats | 김정현, 박은국, 정선용 |
| 2014 | | TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions. | 손영배, 임현이, 정선용, 한재호 |
| 2015 | | Targeted inhibition of mitochondrial Hsp90 induces mitochondrial elongation in Hep3B hepatocellular carcinoma cells undergoing apoptosis by increasing the ROS level. | 정선용 |
| 2009 | | The Clinical Features, Immunostaining and Genetic Study in Duchenne/Becker Muscular Dystrophy | 고정민 |
| 2010 | | The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome. | 고정민 |
| 2014 | | The effect of Lycii Radicis Cortex extract on bone formation in vitro and in vivo. | 김정현, 박은국, 정선용, 정윤석, 조두연 |
| 2018 | | The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology | 손영배 |
| 2015 | | The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses. | 손영배, 임신영 |
