Medical Genetics242

Pub YearTitleAuthor(s)
2011Replicated association between genetic variation in the PARK2 gene and blood pressure.정선용, 진현석
2012Replicated Association between SLC4A4 Gene and Blood Pressure Traits in the Korean Population진현석
2014Retinal pigment epithelial cells undergoing mitotic catastrophe are vulnerable to autophagy inhibition.정선용
2012Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases손영배
2022Ribes fasciculatum Ameliorates High-Fat-Diet-Induced Obesity by Elevating Peripheral Thermogenic Signaling박은국
2022RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A손영배
2004Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis.정선용
2015Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.손영배
2011SCA in Korea and its regional distribution: a multicenter analysis.김현주, 용석우
2020Scopolin Attenuates Osteoporotic Bone Loss in Ovariectomized Mice김정현, 박은국, 정선용
2020Scopolin Prevents Adipocyte Differentiation in 3T3-L1 Preadipocytes and Weight Gain in an Ovariectomy-Induced Obese Mouse Model김정현, 박은국, 이창근, 정선용
2016Skin 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 Hybridization손영배
2021Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome손영배
2007Spinocerebellar ataxia 7 (SCA7)김현주, 정선용
2017STRA6 as a possible candidate gene for pathogenesis of osteoporosis from RNAseq analysis of human mesenchymal stem cells원예연, 정선용, 정윤석, 최용준
2011Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome김현주
1998Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.김현주
2016Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures.손영배
2018Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11박규정, 손영배, 이해상, 황진순
2019Synergistic Neuroprotective Effect of Schisandra chinensis and Ribes fasciculatum on Neuronal Cell Death and Scopolamine-Induced Cognitive Impairment in Rats김정현, 박은국, 정선용
1 2 3 4 5 6 7 8 9 10 11 12

Browse