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Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy.
Shin HY, Jang H, Han JH, Park HJ, Lee JH, Kim SW, Kim SM, Park YE, Kim DS, Bang D, Lee MG, Lee JH, Choi YC. Shin HY, et al. Among authors: kim ds, kim sw, kim sm. Neuromuscul Disord. 2015 Jun;25(6):502-10. doi: 10.1016/j.nmd.2015.03.006. Epub 2015 Mar 16. Neuromuscul Disord. 2015. PMID: 25868377
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
Choi JH, Lee BH, Heo SH, Kim GH, Kim YM, Kim DS, Ko JM, Sohn YB, Hong YH, Lee DH, Kook H, Lim HH, Kim KH, Kim WS, Hong GR, Kim SH, Park SH, Kim CD, Kim SM, Seo JS, Yoo HW. Choi JH, et al. Among authors: kim ds, kim gh, kim cd, kim ym, kim sh, kim sm, kim ws, kim kh. Medicine (Baltimore). 2017 Jul;96(29):e7387. doi: 10.1097/MD.0000000000007387. Medicine (Baltimore). 2017. PMID: 28723748 Free PMC article.
Myasthenia gravis seronegative for acetylcholine receptor antibodies in South Korea: Autoantibody profiles and clinical features.
Park KH, Waters P, Woodhall M, Lang B, Smith T, Sung JJ, Kim KK, Lim YM, Kim JE, Kim BJ, Park JS, Lim JG, Kim DS, Kwon O, Sohn EH, Bae JS, Yoon BN, Kim NH, Ahn SW, Oh J, Park HJ, Shin KJ, Hong YH. Park KH, et al. Among authors: kim ds, kim kk, kim bj, kim nh, kim je. PLoS One. 2018 Mar 8;13(3):e0193723. doi: 10.1371/journal.pone.0193723. eCollection 2018. PLoS One. 2018. PMID: 29518096 Free PMC article.
Clinical pitfalls and serological diagnostics of MuSK myasthenia gravis.
Kwon YN, Woodhall M, Sung JJ, Kim KK, Lim YM, Kim H, Kim JE, Baek SH, Kim BJ, Park JS, Seok HY, Kim DS, Kwon O, Park KH, Sohn E, Bae JS, Yoon BN, Kim NH, Ahn SW, Choi K, Oh J, Park HJ, Shin KJ, Lee S, Park J, Kim SH, Seok JI, Bae DW, An JY, Joo IS, Choi SJ, Nam TS, Kim S, Park KJ, Kwon KH, Waters P, Hong YH. Kwon YN, et al. Among authors: kim ds, kim kk, kim h, kim sh, kim s, kim bj, kim nh, kim je. J Neurol. 2023 Mar;270(3):1478-1486. doi: 10.1007/s00415-022-11458-4. Epub 2022 Nov 17. J Neurol. 2023. PMID: 36396811 Free PMC article.
4,699 results