Browsing "Medical Genetics" by Publication Year :

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Showing results 81 to 100 of 225

Pub YearTitleAuthor(s)
2015Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.손영배
2015Isolated patchy heterochromia of the scalp hair.김유찬, 손성향, 손영배
2015The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.손영배, 임신영
2015A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.손영배
2015Association of the I264T variant in the sulfide quinone reductase-like (SQRDL) gene with osteoporosis in Korean postmenopausal women.김범택, 김정현, 박은국, 정선용
2015Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.손영배
2015Experimental study of the potential hazards of surgical smoke from powered instruments.김철호, 김현준, 정선용, 한재호
2014A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation박상욱, 손영배, 정선용
2014A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation손영배, 장주영
2014The effect of Lycii Radicis Cortex extract on bone formation in vitro and in vivo.김정현, 박은국, 정선용, 정윤석, 조두연
2014GATA4 negatively regulates osteoblast differentiation by downregulation of Runx2.변해옥, 송인선, 윤계순
2014Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.이기영, 임신영, 정선용
2014The PARK2 gene is involved in the maintenance of pancreatic β-cell functions related to insulin production and secretion.강엽, 정선용, 진현석
2014A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.손영배
2014Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).손영배
2014Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysis.손영배
2014Retinal pigment epithelial cells undergoing mitotic catastrophe are vulnerable to autophagy inhibition.정선용
2014TIMP-1 modulates chemotaxis of human neural stem cells through CD63 and integrin signalling.이명애, 정선용
2014First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.손영배
2014Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.손영배
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