Yoo-Mi Kim

Yoo-Mi Kim

Chungnam National University - Daejeon / South Korea
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 4332070
충남대학교
person_outline Yoo-Mi Kim's MOST POPULAR ARTICLES
1-) A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17, 20-lyase deficiency, a case series of such mutations among Koreans and functional …YM Kim, M Kang, JH Choi, BH Lee, GH Kim, JH Ohn, SY Kim, MS Park, ...Metabolism 63 (1), 42-49, 2014632014
2-) High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glandsHY Jin, SH Heo, YM Kim, GH Kim, JH Choi, BH Lee, HW YooHormone research in paediatrics 82 (4), 252-260, 2014542014
3-) Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 geneCK Cheon, SH Lim, YM Kim, D Kim, NY Lee, TS Yoon, NS Kim, E Kim, ...Scientific reports 7 (1), 12527, 2017422017
4-) Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiencyJH Choi, BH Lee, JH Kim, GH Kim, YM Kim, J Cho, CK Cheon, JM Ko, ...Journal of Human Genetics 60 (9), 501-507, 2015492015
5-) High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencingYM Kim, YJ Lee, JH Park, HD Lee, CK Cheon, SY Kim, JY Hwang, ...Clinical Genetics 92 (6), 594-605, 2017392017