Browsing "Medical Genetics" by Publication Year :

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Showing results 41 to 60 of 225

Pub YearTitleAuthor(s)
2019Drp1 Phosphorylation Is Indispensable for Steroidogenesis in Leydig Cells정선용
2019Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia손영배
2019Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia손영배
2019Cirsium japonicum var. maackii and apigenin block Hif-2alpha-induced osteoarthritic cartilage destruction강이중, 박은국, 양시영, 정선용
2018Concurrent TSHR mutations and DIO2 T92A polymorphism result in abnormal thyroid hormone metabolism김정현, 박은국, 정선용
2018Antiadipogenic Effects of Loganic Acid in 3T3-L1 Preadipocytes and Ovariectomized Mice김정현, 박은국, 정선용
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
2018Neuroprotective Effects of Schisandra chinensis and Ribes fasciculatum Extract on Hydrogen Peroxide-Mediated Oxidative Stress in Neuroblastic SH-SY5Y Cell Line박은국, 정선용
2018Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11박규정, 손영배, 이해상, 황진순
20183'-Sialyllactose as an inhibitor of p65 phosphorylation ameliorates the progression of experimental rheumatoid arthritis강이중, 양시영, 정선용
2018Makorin 1 Regulates Developmental Timing in Drosophila김은영, 이해상, 정선용, 황진순
2018Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder김정현, 박찬배, 이영수, 임신영, 정선용
2017Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis손영배
2017Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies김정현
2017Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype손영배
2017STRA6 as a possible candidate gene for pathogenesis of osteoporosis from RNAseq analysis of human mesenchymal stem cells원예연, 정선용, 정윤석, 최용준
2017Hochu-ekki-to Treatment Improves Reproductive and Immune Modulation in the Stress-Induced Rat Model of Polycystic Ovarian Syndrome박은국
2017Transcriptional profiling of human femoral mesenchymal stem cells in osteoporosis and its association with adipogenesis원예연, 정선용, 정윤석, 최용준
2017A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes손영배, 송형근, 정윤석, 최용준
2017Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings손영배, 이은소
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