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손, 영배(Sohn, Young Bae) Currently indexed
[School of Medicine / Graduate School of Medicine] - [Medical Genetics]

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Pub YearTitleAuthor(s)
2019Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial손영배
2019Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis손영배, 장주영
2019Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia손영배
2019Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia손영배
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
2018Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11박규정, 손영배, 이해상, 황진순
2017Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing손영배, 이다근, 장주영
2017Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings손영배, 이은소
2017Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype손영배
2017A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes손영배, 송형근, 정윤석, 최용준
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
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
2016Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients손영배
2016AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II손영배
2015Isolated patchy heterochromia of the scalp hair.김유찬, 손성향, 손영배
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
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