Medical Genetics182

Publication YearTitleAJOU
Author
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
2016Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls이해상권은별정선용황진순
2016Evaluation of the VE1 Antibody in Thyroid Cytology Using Ex Vivo Papillary Thyroid Carcinoma Specimens김연희임현이이용희한재호이기범이정훈소의영정선용김장희
2016Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients손영배
2016Caloric restriction improves diabetes-induced cognitive deficits by attenuating neurogranin-associated calcium signaling in high-fat diet-fed mice김정현정선용
2016Caloric restriction of db/db mice reverts hepatic steatosis and body weight with divergent hepatic metabolism김정현정선용
2016AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II손영배
2013A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome손영배
2015Isolated patchy heterochromia of the scalp hair.손영배손성향김유찬
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