Browsing by AJOU Author : 손영배

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Showing results 50 to 67 of 67

Pub YearTitleAuthor(s)
2019Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia손영배
2013NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.김영배, 손영배, 임현이, 정선용, 진현석, 한재호
2013Obesity and calcinosis cutis: characteristic early signs of infantile pseudohypoparathyroidism.손영배, 이은소, 조재호, 황진순
2013Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.손영배
2015Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.손영배
2013Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome).손영배
2017Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings손영배, 이은소
2012Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome손영배, 임신영
2012Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases손영배
2015Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with 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
2016Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures.손영배
2018Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11박규정, 손영배, 이해상, 황진순
2014TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.손영배, 임현이, 정선용, 한재호
2018The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology손영배
2015The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.손영배, 임신영
2013The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.손영배
2012Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence손영배
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