Browsing "Medical Genetics" by Publication Year :
Showing results 121 to 140 of 225
| Pub Year | | Title | Author(s) |
| 2013 | | Glycogen Synthase Kinase 3 Inactivation Induces Cell Senescence through Sterol Regulatory Element Binding Protein 1-Mediated Lipogenesis in Chang Cells | 송인선, 윤계순 |
| 2013 | | Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases | 손영배, 임신영, 정윤석 |
| 2013 | | High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II. | 손영배 |
| 2013 | | Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1. | 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 | | p21(WAF¹/C¹P¹) deficiency induces mitochondrial dysfunction in HCT116 colon cancer cells. | 정선용 |
| 2013 | | Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests. | 손영배 |
| 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 | | A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome | 손영배 |
| 2013 | | A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman | 손영배, 정윤석 |
| 2012 | | Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II | 손영배 |
| 2012 | | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | 김현주, 정선용 |
| 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 |
| 2012 | | Inhibition of Bcl-xL by ABT-737 enhances chemotherapy sensitivity in neurofibromatosis type 1-associated malignant peripheral nerve sheath tumor cells | 김보영, 김현주, 임현이, 정선용, 진현석, 한재호 |
| 2012 | | Histone deacetylase inhibitors induce mitochondrial elongation | 정선용 |
| 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 | | Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations | 박동하, 윤수한, 정선용 |
| 2012 | | Replicated Association between SLC4A4 Gene and Blood Pressure Traits in the Korean Population | 진현석 |
| 2012 | | A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene | 손영배 |
| 2012 | | Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature | 손영배 |
