Browsing "Radiology" by Keyword : Mutation
Showing results 1 to 17 of 17
Pub Year | | Title | Author(s) |
2011 | | A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia. | 김옥화 |
2007 | | Achondroplasia and enchondromatosis: report of three boys. | 김옥화 |
2010 | | Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. | 김옥화 |
2012 | | Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency | 김옥화, 손영배 |
2024 | | Deep learning–radiomics integrated noninvasive detection of epidermal growth factor receptor mutations in non-small cell lung cancer patients | 김철호, 노진, 유슬기, 허재성 |
2018 | | Diffusion-Weighted Imaging of Brain Metastasis from Lung Cancer: Correlation of MRI Parameters with the Histologic Type and Gene Mutation Status | 정우상 |
2013 | | Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. | 김옥화 |
2011 | | Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. | 김옥화 |
2016 | | Initial clinical experience with BRAF(V600E) mutation analysis of core-needle biopsy specimens from thyroid nodules | 하은주 |
2010 | | Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. | 김옥화 |
2013 | | Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients. | 김옥화 |
2014 | | Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. | 김옥화 |
2012 | | PAPSS2 mutations cause autosomal recessive brachyolmia | 김옥화 |
2021 | | Presence of TERT ± BRAF V600E mutation is not a risk factor for the clinical management of patients with papillary thyroid microcarcinoma | 김형규, 노진, 이정훈, 하은주 |
2010 | | Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. | 김옥화 |
2010 | | TRPV4-pathy, a novel channelopathy affecting diverse systems. | 김옥화 |
2011 | | Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). | 김옥화 |
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