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

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Showing results 61 to 80 of 80

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Pub YearTitleAuthor(s)
2013Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.손영배
2013Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.손영배, 정선용, 진현석
2013Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests.손영배
2013Obesity and calcinosis cutis: characteristic early signs of infantile pseudohypoparathyroidism.손영배, 이은소, 조재호, 황진순
2013Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.김성환, 박문성, 손영배, 이장훈
2013An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.손영배, 정선용, 정윤석
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
2012Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty손영배
2012Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA손영배
2012Continuous renal replacement therapy in neonates weighing less than 3 kg손영배
2012Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1김현주, 손영배, 안영실, 이수진, 정선용, 최진욱
2012A Case of CATCH22 Syndrome with Normal Parathyroid Function손영배, 안소연, 정윤석
2012Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome손영배, 임신영
2012Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II손영배
2012Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency김옥화, 손영배
2012Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature손영배
2012Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence손영배
2012Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation손영배
2012A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene손영배
2012Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases손영배
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