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Broadening the scope of multigene panel analysis for adult epilepsy patients.
Lee S, Kang MK, So KH, Jang R, Shin YW, Jang SS, Yoon JG, Kim S, Kim M, Chu K, Lee SK, Kim KJ, Baek ST, Lim BC, Moon J. Lee S, et al. Among authors: kim kj, kim s, kim m. Epilepsia Open. 2024 Aug;9(4):1538-1549. doi: 10.1002/epi4.12993. Epub 2024 Jul 1. Epilepsia Open. 2024. PMID: 38946282 Free PMC article.
The First Korean Case of VEXAS Syndrome Caused by a UBA1 Somatic Variant.
Yoon JG, Lee S, Kim S, Kim MJ, Chang YH, Park JK, Shin DY, Moon J. Yoon JG, et al. Among authors: kim s, kim mj. Ann Lab Med. 2023 Mar 1;43(2):217-220. doi: 10.3343/alm.2023.43.2.217. Epub 2022 Oct 25. Ann Lab Med. 2023. PMID: 36281520 Free PMC article. No abstract available.
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.
Lee S, Yoon JG, Hong J, Kim T, Kim N, Vandrovcova J, Yau WY, Cho J, Kim S, Kim MJ, Kim SY, Lee ST, Chu K, Lee SK, Kim HJ, Choi J, Moon J, Chae JH. Lee S, et al. Among authors: kim hj, kim t, kim s, kim sy, kim n, kim mj. Neurol Genet. 2024 May 20;10(3):e200147. doi: 10.1212/NXG.0000000000200147. eCollection 2024 Jun. Neurol Genet. 2024. PMID: 38779172 Free PMC article.
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.
Park H, Kim JI, Ju YS, Gokcumen O, Mills RE, Kim S, Lee S, Suh D, Hong D, Kang HP, Yoo YJ, Shin JY, Kim HJ, Yavartanoo M, Chang YW, Ha JS, Chong W, Hwang GR, Darvishi K, Kim H, Yang SJ, Yang KS, Kim H, Hurles ME, Scherer SW, Carter NP, Tyler-Smith C, Lee C, Seo JS. Park H, et al. Among authors: kim ji, kim h, kim hj, kim s. Nat Genet. 2010 May;42(5):400-5. doi: 10.1038/ng.555. Epub 2010 Apr 4. Nat Genet. 2010. PMID: 20364138 Free PMC article.
124,345 results
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