2013 | | A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman | 손영배, 정윤석 |
2013 | | Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study. | 김현주, 손영배, 임신영 |
2013 | | High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II. | 손영배 |
2013 | | Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. | 손영배 |
2013 | | Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1. | 손영배, 임신영 |
2013 | | Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1. | 손영배 |
2013 | | Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. | 김현주, 손영배, 정선용 |
2013 | | Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice. | 손영배 |
2013 | | Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome). | 손영배 |
2013 | | The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea. | 손영배 |
2013 | | Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA. | 손영배 |
2013 | | Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations. | 손영배, 정선용, 진현석 |
2013 | | Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests. | 손영배 |
2013 | | Obesity and calcinosis cutis: characteristic early signs of infantile pseudohypoparathyroidism. | 손영배, 이은소, 조재호, 황진순 |
2013 | | Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization. | 김성환, 박문성, 손영배, 이장훈 |
2013 | | An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report. | 손영배, 정선용, 정윤석 |
2013 | | NF1 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 |
2012 | | Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty | 손영배 |
2012 | | Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA | 손영배 |
2012 | | Continuous renal replacement therapy in neonates weighing less than 3 kg | 손영배 |
2012 | | Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1 | 김현주, 손영배, 안영실, 이수진, 정선용, 최진욱 |
2012 | | A Case of CATCH22 Syndrome with Normal Parathyroid Function | 손영배, 안소연, 정윤석 |
2012 | | Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome | 손영배, 임신영 |
2012 | | Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II | 손영배 |
2012 | | Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency | 김옥화, 손영배 |
2012 | | Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature | 손영배 |
2012 | | Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence | 손영배 |
2012 | | Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation | 손영배 |
2012 | | A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene | 손영배 |
2012 | | Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases | 손영배 |