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

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ISNI
000000047379557X
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Showing results 41 to 60 of 80

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Pub YearTitleAuthor(s)
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
2014Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.손영배, 정선용
2014A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.손영배
2014First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.손영배
2014Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).손영배
2014A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation박상욱, 손영배, 정선용
2014A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation손영배, 장주영
2013A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome손영배
2013Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases손영배, 임신영, 정윤석
2013Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH손영배
2013A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman손영배, 정윤석
2013Array-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
2013High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.손영배
2013Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.손영배
2013Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.손영배, 임신영
2013Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.손영배
2013Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.김현주, 손영배, 정선용
2013Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.손영배
2013Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome).손영배
2013The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.손영배
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