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Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.
Kim SY, Kim AR, Kim NK, Lee C, Han JH, Kim MY, Jeon EH, Park WY, Mittal R, Yan D, Liu XZ, Choi BY. Kim SY, et al. Among authors: kim ar, kim my, kim nk. J Gene Med. 2016 Nov;18(11-12):353-358. doi: 10.1002/jgm.2935. J Gene Med. 2016. PMID: 27886419 Free PMC article.
Atypical hemolytic uremic syndrome: Korean pediatric series.
Lee JM, Park YS, Lee JH, Park SJ, Shin JI, Park YH, Yoo KH, Cho MH, Kim SY, Kim SH, Namgoong MK, Lee SJ, Lee JH, Cho HY, Han KH, Kang HG, Ha IS, Bae JS, Kim NK, Park WY, Cheong HI. Lee JM, et al. Among authors: kim sh, kim sy, kim nk. Pediatr Int. 2015 Jun;57(3):431-8. doi: 10.1111/ped.12549. Epub 2015 Feb 7. Pediatr Int. 2015. PMID: 25443527
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.
1,158 results