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 |
2020 | | The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects | 손영배 |
2012 | | The Genetic Variations of ESR1 Gene are Associated with Blood Pressure Traits in the Korean Women | 진현석 |
2022 | | The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure | 손영배 |
2019 | | The loss of succinate dehydrogenase B expression is frequently identified in hemangioblastoma of the central nervous system | 김세혁, 김장희, 노진, 노태훈, 이기범, 임현이, 정선용 |
2010 | | The natural history and prognostic factors of Graves’ disease in Korean children and adolescents | 고정민 |
2014 | | The PARK2 gene is involved in the maintenance of pancreatic β-cell functions related to insulin production and secretion. | 강엽, 정선용, 진현석 |
2013 | | The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea. | 손영배 |
2007 | | The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome | 김현주 |
2022 | | Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair | 손영배 |
2014 | | TIMP-1 modulates chemotaxis of human neural stem cells through CD63 and integrin signalling. | 이명애, 정선용 |
2017 | | Transcriptional profiling of human femoral mesenchymal stem cells in osteoporosis and its association with adipogenesis | 원예연, 정선용, 정윤석, 최용준 |
2011 | | Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis | 윤수한, 정선용 |
2012 | | Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence | 손영배 |