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De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.
Yoon JG, Lim SK, Seo H, Lee S, Cho J, Kim SY, Koh HY, Poduri AH, Ramakumaran V, Vasudevan P, de Groot MJ, Ko JM, Han D, Chae JH, Lee CH. Yoon JG, et al. Among authors: lee ch, lee s. Am J Hum Genet. 2024 Aug 8;111(8):1588-1604. doi: 10.1016/j.ajhg.2024.06.015. Epub 2024 Jul 23. Am J Hum Genet. 2024. PMID: 39047730 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: lee s. 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: lee sk, lee st. Neurol Genet. 2024 May 20;10(3):e200147. doi: 10.1212/NXG.0000000000200147. eCollection 2024 Jun. Neurol Genet. 2024. PMID: 38779172 Free PMC article.
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: lee sk. 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.
132,952 results
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