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FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.
Cho JS, Kim SH, Kim HY, Chung T, Kim D, Jang S, Lee SB, Yoo SK, Shin J, Kim JI, Kim H, Hwang H, Chae JH, Choi J, Kim KJ, Lim BC. Cho JS, et al. Among authors: kim ji, kim kj, kim hy, kim h, kim sh, kim d. Epilepsy Res. 2017 Jan;129:118-124. doi: 10.1016/j.eplepsyres.2016.11.022. Epub 2016 Dec 2. Epilepsy Res. 2017. PMID: 28043061 Review.
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
Min BJ, Kim N, Chung T, Kim OH, Nishimura G, Chung CY, Song HR, Kim HW, Lee HR, Kim J, Kang TH, Seo ME, Yang SD, Kim DH, Lee SB, Kim JI, Seo JS, Choi JY, Kang D, Kim D, Park WY, Cho TJ. Min BJ, et al. Among authors: kim hw, kim ji, kim dh, kim d, kim n, kim oh, kim j. Am J Hum Genet. 2011 Dec 9;89(6):760-6. doi: 10.1016/j.ajhg.2011.10.015. Am J Hum Genet. 2011. PMID: 22152677 Free PMC article.
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
Chung J, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY. Chung J, et al. Among authors: kim v, kim ar, kim d. J Mol Med (Berl). 2014 Jun;92(6):651-63. doi: 10.1007/s00109-014-1128-3. Epub 2014 Feb 15. J Mol Med (Berl). 2014. PMID: 24526180
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