Medical Genetics175

Publication YearTitleAJOU
Author
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
2015A reply to a commentary on identification 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.임신영정선용
2015Experimental study of the potential hazards of surgical smoke from powered instruments.김철호정선용한재호김현준
2015Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.손영배
2015Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.손영배
2015Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.손영배
2015Disease-specific Growth Charts of Marfan Syndrome Patients in Korea.손영배
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
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