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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.
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: kim kj, kim ss, kim h, kim sy, kim js. Muscle Nerve. 2017 May;55(5):727-734. doi: 10.1002/mus.25396. Epub 2017 Jan 20. Muscle Nerve. 2017. PMID: 27593222
Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173.
Seo J, Kang JA, Suh DI, Park EB, Lee CR, Choi SA, Kim SY, Kim Y, Park SH, Ye M, Kwon SH, Park JD, Lim BC, Lee DH, Kang SJ, Choi M, Park SG, Chae JH. Seo J, et al. Among authors: kim sy, kim y. J Allergy Clin Immunol. 2017 Apr;139(4):1396-1399.e12. doi: 10.1016/j.jaci.2016.10.030. Epub 2016 Dec 29. J Allergy Clin Immunol. 2017. PMID: 28041677 Free article. No abstract available.
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.
Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC. Choi SA, et al. Among authors: kim kj, kim h, kim sy, kim s. Ann Lab Med. 2017 Nov;37(6):516-521. doi: 10.3343/alm.2017.37.6.516. Ann Lab Med. 2017. PMID: 28840990 Free PMC article.
12,046 results
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