Medical Genetics190

Publication YearTitleAJOU
Author
2018Neuroprotective Effects of Schisandra chinensis and Ribes fasciculatum Extract on Hydrogen Peroxide-Mediated Oxidative Stress in Neuroblastic SH-SY5Y Cell Line박은국정선용
2018Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder박찬배이영수김정현정선용임신영
2018The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology손영배
2018Makorin 1 Regulates Developmental Timing in Drosophila이해상정선용황진순김은영
20183'-Sialyllactose as an inhibitor of p65 phosphorylation ameliorates the progression of experimental rheumatoid arthritis강이중정선용양시영
2018Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11박규정손영배이해상황진순
2018Antiadipogenic Effects of Loganic Acid in 3T3-L1 Preadipocytes and Ovariectomized Mice박은국김정현정선용
2018Concurrent TSHR mutations and DIO2 T92A polymorphism result in abnormal thyroid hormone metabolism박은국김정현정선용
2017Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing손영배장주영이다근
2017Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings손영배이은소
2017STRA6 as a possible candidate gene for pathogenesis of osteoporosis from RNAseq analysis of human mesenchymal stem cells최용준정선용원예연정윤석
2017Hochu-ekki-to Treatment Improves Reproductive and Immune Modulation in the Stress-Induced Rat Model of Polycystic Ovarian Syndrome박은국
2017Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype손영배
2017A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes송형근손영배최용준정윤석
2017Transcriptional profiling of human femoral mesenchymal stem cells in osteoporosis and its association with adipogenesis최용준정선용원예연정윤석
2017Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis손영배
2016Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures.손영배
2016Effects of Dihydrophaseic Acid 3'-O-beta-d-Glucopyranoside Isolated from Lycii radicis Cortex on Osteoblast Differentiation박은국김정현정선용
2016Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies손영배
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
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