Browsing "Medical Genetics" by Keyword : Mutation, Missense
Showing results 1 to 10 of 10
| Pub Year | | Title | Author(s) |
| 2017 | | A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes | 손영배, 송형근, 정윤석, 최용준 |
| 2010 | | A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. | 김옥화, 김현주, 정선용 |
| 2015 | | Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene. | 손영배 |
| 2013 | | Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA. | 손영배 |
| 2014 | | Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis. | 손영배 |
| 2017 | | Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies | 김정현 |
| 2020 | | Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing | 금창대, 노정기, 이해상, 정선용, 정재연, 황진순 |
| 2016 | | Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls | 권은별, 이해상, 정선용, 황진순 |
| 2019 | | Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia | 손영배 |
| 2012 | | Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence | 손영배 |
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