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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: kim kj, kim h, kim wj, kim yo, kim js, kim ws. 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: kim e, kim h, kim wj, kim sy, kim js, kim ws. Sci Rep. 2020 Jan 29;10(1):1413. doi: 10.1038/s41598-020-58101-8. Sci Rep. 2020. PMID: 31996704 Free PMC article.
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure.
Kim SY, Lee S, Woo H, Han J, Ko YJ, Shim Y, Park S, Jang SS, Lim BC, Ko JM, Kim KJ, Cho A, Kim H, Hwang H, Choi JE, Kim MJ, Moon J, Seong MW, Park SS, Choi SA, Lee JE, Kwon YS, Sohn YB, Kim JS, Kim WS, Lee YJ, Kwon S, Kim YO, Kook H, Cho YG, Cheon CK, Kang KS, Song MR, Kim YJ, Cha HJ, Choi HJ, Kee Y, Park SG, Baek ST, Choi M, Ryu DS, Chae JH. Kim SY, et al. Among authors: kim kj, kim h, kim yj, kim yo, kim js, kim ws, kim mj. Orphanet J Rare Dis. 2022 Oct 8;17(1):372. doi: 10.1186/s13023-022-02520-5. Orphanet J Rare Dis. 2022. PMID: 36209187 Free PMC article.
2,778 results