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Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH, Chae J, Choi S, Kim MJ, Choi M, Chae JH, Cho EH, Hwang TJ, Jang SS, Kim JI, Park KS, Bang YJ. Kwak SH, et al. Among authors: choi m, choi s. Exp Mol Med. 2017 Jul 14;49(7):e356. doi: 10.1038/emm.2017.142. Exp Mol Med. 2017. PMID: 28706299 Free PMC article.
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
Royer-Bertrand B, Castillo-Taucher S, Moreno-Salinas R, Cho TJ, Chae JH, Choi M, Kim OH, Dikoglu E, Campos-Xavier B, Girardi E, Superti-Furga G, Bonafé L, Rivolta C, Unger S, Superti-Furga A. Royer-Bertrand B, et al. Among authors: choi m. Sci Rep. 2015 Nov 24;5:17154. doi: 10.1038/srep17154. Sci Rep. 2015. PMID: 26598328 Free PMC article.
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
Min Ko J, Cho JS, Yoo Y, Seo J, Choi M, Chae JH, Lee HR, Cho TJ. Min Ko J, et al. Among authors: choi m. J Child Neurol. 2017 Feb;32(2):237-242. doi: 10.1177/0883073816674095. Epub 2016 Oct 24. J Child Neurol. 2017. PMID: 27777327
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: choi m, choi sa. 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.
8,960 results