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The Korean undiagnosed diseases program: lessons from a one-year pilot project.
Kim SY, Lim BC, Lee JS, Kim WJ, Kim H, Ko JM, Kim KJ, Choi SA, Kim H, Hwang H, Choi JE, Cho A, Moon J, Seong MW, Park SS, Lee YJ, Kim YO, Kim JS, Kim WS, Kwon YS, Park JD, Ahn Y, Hwang JY, Park HY, Lee Y, Choi M, Chae JH. Kim SY, et al. Among authors: lee js, lee y, lee yj. Orphanet J Rare Dis. 2019 Mar 20;14(1):68. doi: 10.1186/s13023-019-1041-5. Orphanet J Rare Dis. 2019. PMID: 30894207 Free PMC article. Review.
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.
Lee Y, Park S, Lee JS, Kim SY, Cho J, Yoo Y, Lee S, Yoo T, Lee M, Seo J, Lee J, Kneissl J, Lee J, Jeon H, Jeon EY, Hong SE, Kim E, Kim H, Kim WJ, Kim JS, Ko JM, Cho A, Lim BC, Kim WS, Choi M, Chae JH. Lee Y, et al. Among authors: lee js, lee j, lee m, lee s. Sci Rep. 2020 Jan 29;10(1):1413. doi: 10.1038/s41598-020-58101-8. Sci Rep. 2020. PMID: 31996704 Free PMC article.
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S, Jang SS, Lee S, Kim M, Sim H, Jeon H, Hong SE, Lee J, Lee J, Jeon EY, Lee J, Lee CR, Kim SY, Kim MJ, Yoon JG, Lim BC, Kim WJ, Kim KJ, Ko JM, Cho A, Lee JS, Choi M, Chae JH. Park S, et al. Among authors: lee js, lee j, lee cr, lee s. Front Genet. 2022 Sep 12;13:990015. doi: 10.3389/fgene.2022.990015. eCollection 2022. Front Genet. 2022. PMID: 36212160 Free PMC article.
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
Cho A, Seong MW, Lim BC, Lee HJ, Byeon JH, Kim SS, Kim SY, Choi SA, Wong AL, Lee J, Kim JS, Ryu HW, Lee JS, Kim H, Hwang H, Choi JE, Kim KJ, Hwang YS, Hong KH, Park S, Cho SI, Lee SJ, Park H, Seo SH, Park SS, Chae JH. Cho A, et al. Among authors: lee sj, lee js, lee j, lee hj. Muscle Nerve. 2017 May;55(5):727-734. doi: 10.1002/mus.25396. Epub 2017 Jan 20. Muscle Nerve. 2017. PMID: 27593222
14,753 results
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