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Showing results 94 to 113 of 225

Pub YearTitleAuthor(s)
2010Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain고정민, 김찬, 한경림
2015Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.손영배
2016Effects of Dihydrophaseic Acid 3'-O-beta-d-Glucopyranoside Isolated from Lycii radicis Cortex on Osteoblast Differentiation김정현, 박은국, 정선용
2022Effects of Loganin on Bone Formation and Resorption In Vitro and In Vivo김정현, 박은국, 정선용
2004Effects of Pamidronate Treatment on Osteogenesis Imperfecta김대중, 김현주, 이관우, 정윤석
2019Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial손영배
2020Efficacy and Safety of Combined Extracts of Cornus officinalis and Ribes fasciculatum for Body Fat Reduction in Overweight Women김정현, 박은국, 이창근, 정선용
2004Endophilin B1 is required for the maintenance of mitochondrial morphology.정선용
2012Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation손영배
2016Evaluation of the VE1 Antibody in Thyroid Cytology Using Ex Vivo Papillary Thyroid Carcinoma Specimens김연희, 김장희, 소의영, 이기범, 이용희, 이정훈, 임현이, 정선용, 한재호
2015Experimental study of the potential hazards of surgical smoke from powered instruments.김철호, 김현준, 정선용, 한재호
2004Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease.김현주
2017Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing손영배, 이다근, 장주영
2012Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature손영배
2014First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.손영배
2013Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.손영배
2014GATA4 negatively regulates osteoblast differentiation by downregulation of Runx2.변해옥, 송인선, 윤계순
2021Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience김정택, 손영배, 조재호
2013Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.정윤석, 진현석
2007Genetic counseling in Korean health care system김현주
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