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Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.
Bae JS, Kim NK, Lee C, Kim SC, Lee HR, Song HR, Park KB, Kim HW, Lee SH, Kim HY, Lee SC, Jeong C, Park MS, Yoo WJ, Chung CY, Choi IH, Kim OH, Park WY, Cho TJ. Bae JS, et al. Among authors: kim hw, kim sc, kim hy, kim oh, kim nk. Genet Med. 2016 Jun;18(6):563-9. doi: 10.1038/gim.2015.129. Epub 2015 Sep 24. Genet Med. 2016. PMID: 26402641 Free article.
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Cho SY, Bae JS, Kim NKD, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK. Cho SY, et al. Am J Hum Genet. 2016 Jun 2;98(6):1243-1248. doi: 10.1016/j.ajhg.2016.04.004. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236923 Free PMC article.
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
Kang HG, Lee HK, Ahn YH, Joung JG, Nam J, Kim NK, Ko JM, Cho MH, Shin JI, Kim J, Park HW, Park YS, Ha IS, Chung WY, Lee DY, Kim SY, Park WY, Cheong HI. Kang HG, et al. Among authors: kim sy, kim j, kim nk. Exp Mol Med. 2016 Aug 5;48(8):e251. doi: 10.1038/emm.2016.63. Exp Mol Med. 2016. PMID: 27491411 Free PMC article.
Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain.
Kim NK, Higashi T, Lee KY, Kim AR, Kitajiri S, Kim MY, Chang MY, Kim V, Oh SH, Kim D, Furuse M, Park WY, Choi BY. Kim NK, et al. Among authors: kim v, kim ar, kim d, kim my. PLoS One. 2015 Feb 10;10(2):e0116931. doi: 10.1371/journal.pone.0116931. eCollection 2015. PLoS One. 2015. PMID: 25668204 Free PMC article.
1,181 results