Browsing "Journal Papers" by AJOU Author : 손영배

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Showing results 1 to 60 of 64

Publication YearTitleAJOU
Author
2014A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.손영배
2013A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman손영배정윤석
2012A Case of CATCH22 Syndrome with Normal Parathyroid Function안소연손영배정윤석
2014A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation손영배장주영
2017A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes송형근손영배최용준정윤석
2014A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation박상욱손영배정선용
2012A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene손영배
2013A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome손영배
2015A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.손영배
2016AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II손영배
2013An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.손영배정선용정윤석
2013Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.김현주임신영손영배
2012Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II손영배
2015Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.손영배
2016Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients손영배
2013Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.손영배박문성김성환이장훈
2013Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.임신영손영배
2013Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.손영배진현석정선용
2017Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype손영배
2013Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.손영배
2017Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis손영배
2012Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency손영배김옥화
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 1손영배안영실이수진최진욱정선용김현주
2016Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies손영배
2012Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty손영배
2015Disease-specific growth charts for Korean infants with Prader-Willi syndrome.손영배
2015Disease-specific Growth Charts of Marfan Syndrome Patients in Korea.손영배
2015Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.손영배
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
2017Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing손영배장주영이다근
2012Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature손영배
2014First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.손영배
2013Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.손영배
2013Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests.손영배
2013Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases손영배임신영정윤석
2014Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.손영배
2013High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.손영배
2015Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.손영배
2014Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.손영배정선용
2014Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).손영배
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
2013Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.손영배
2015Isolated patchy heterochromia of the scalp hair.손영배손성향김유찬
2013Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH손영배
2013Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.손영배정선용김현주
2013NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.손영배진현석한재호김영배임현이정선용
2013Obesity and calcinosis cutis: characteristic early signs of infantile pseudohypoparathyroidism.손영배조재호황진순이은소
2013Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.손영배
2015Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.손영배
2013Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome).손영배
2017Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings손영배이은소
2012Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome임신영손영배
2012Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases손영배
2015Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.손영배
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
2016Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures.손영배
2018Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11박규정손영배이해상황진순
2014TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.임현이한재호손영배정선용
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