Browsing by Ajou Author

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

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Pub YearTitleAuthor(s)
2024Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI—LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT)손영배
2023Using low-dose octreotide with diazoxide-resistant congenital hyperinsulinism resulting from com-pound heterozygous mutations in the ABCC8 gene손영배, 이해상, 황진순
2023Aperiodic alternating nystagmus in adult-onset Alexander disease with a novel mutation손영배, 이성준, 이진수, 홍지만
2022RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A손영배
2022Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair손영배
2022Genetic obesity: an update with emerging therapeutic approaches손영배
2022Updates on Paget’s Disease of Bone손영배, 정윤석, 최용준
2022The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure손영배
2021Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome손영배
2021Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience김정택, 손영배, 조재호
2020The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects손영배
2020Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review박동규, 손성향, 손영배, 윤정한
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
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