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Showing results 39 to 67 of 67

Pub YearTitleAuthor(s)
2013Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases손영배, 임신영, 정윤석
2014Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.손영배
2013High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.손영배
2015Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.손영배
2014Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.손영배, 정선용
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
2013Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.손영배
2015Isolated patchy heterochromia of the scalp hair.김유찬, 손성향, 손영배
2013Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH손영배
2013Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.김현주, 손영배, 정선용
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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