Medical Genetics242

Pub YearTitleAuthor(s)
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
2013Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests.손영배
2022Genetic obesity: an update with emerging therapeutic approaches손영배
2010Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts.진현석
2010Genetic variations in the sodium balance-regulating genes ENaC, NEDD4L, NDFIP2 and USP2 influence blood pressure and hypertension.진현석
2012Genetic Variations of ESR1 Gene are Associated with Bone Mineral Density Traits in Korean Women진현석
2011Genetic Variations of GNRH1, GNRHR and GPR54 Genes in Korean Girls with Central Precocious Puberty고정민, 이해상, 황진순
2013Genome-wide association study of serum albumin:globulin ratio in Korean populations.진현석
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