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Showing results 21 to 28 of 28

Pub YearTitleAuthor(s)
2013Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.김현주, 손영배, 정선용
2012Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism김현주, 정선용
2004Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.김현주
2013Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome).손영배
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
2014TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.손영배, 임현이, 정선용, 한재호
2010The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome.고정민
2020The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects손영배
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