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TNNT1 myopathy with novel compound heterozygous mutations.
Lee S, Eum J, Park S, Ki S, Hwang BJ, Kee Y, Chae JH. Lee S, et al. Among authors: park s. Neuromuscul Disord. 2022 Feb;32(2):176-184. doi: 10.1016/j.nmd.2021.12.003. Epub 2021 Dec 16. Neuromuscul Disord. 2022. PMID: 35165004
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: park ss, park s, park sg. 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.
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: park s. Sci Rep. 2020 Jan 29;10(1):1413. doi: 10.1038/s41598-020-58101-8. Sci Rep. 2020. PMID: 31996704 Free PMC article.
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