Browsing "Medical Genetics" by Keyword : Mutation
Showing results 18 to 27 of 27
| Pub Year | | Title | AJOU Author(s) |
| 2018 | | Makorin 1 Regulates Developmental Timing in Drosophila | 김은영, 이해상, 정선용, 황진순 |
| 2012 | | Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations | 박동하, 윤수한, 정선용 |
| 2013 | | Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. | 김현주, 손영배, 정선용 |
| 2012 | | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | 김현주, 정선용 |
| 2004 | | Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia. | 김현주 |
| 2010 | | Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. | 고정민 |
| 1998 | | Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. | 김현주 |
| 2018 | | Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11 | 박규정, 손영배, 이해상, 황진순 |
| 2020 | | The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects | 손영배 |
| 2015 | | VE1 antibody is not highly specific for the BRAF V600E mutation in thyroid cytology categories with the exception of malignant cases. | 김대중, 김장희, 소의영, 신승수, 이기범, 이정훈, 임현이, 정선용, 정윤석, 한재호 |
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