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Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, Jung SE, Song SJ, Yildirim M, Bayram M, Tuna EB, Gencay K, Kim JW. Cho SH, et al. Among authors: song sj. Hum Mutat. 2012 Jan;33(1):91-4. doi: 10.1002/humu.21621. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21990045
A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH, Lee ZH, Kim OH, Park WY, Park SS, Ikegawa S, Yoo WJ, Choi IH, Kim JW. Cho TJ, et al. Among authors: song sj. Am J Hum Genet. 2012 Aug 10;91(2):343-8. doi: 10.1016/j.ajhg.2012.06.005. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863190 Free PMC article.
Castleman's disease presenting with uveal effusion syndrome.
Park SH, Song SJ. Park SH, et al. Among authors: song sj. Korean J Ophthalmol. 2010 Jun;24(3):182-5. doi: 10.3341/kjo.2010.24.3.182. Epub 2010 Jun 5. Korean J Ophthalmol. 2010. PMID: 20532148 Free PMC article.
975 results