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Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.
Lee Y, Park S, Lee JS, Kim SY, Cho J, Yoo Y, Lee S, Yoo T, Lee M, Seo J, Lee J, Kneissl J, Lee J, Jeon H, Jeon EY, Hong SE, Kim E, Kim H, Kim WJ, Kim JS, Ko JM, Cho A, Lim BC, Kim WS, Choi M, Chae JH. Lee Y, et al. Among authors: kim e, kim h, kim wj, kim sy, kim js, kim ws. Sci Rep. 2020 Jan 29;10(1):1413. doi: 10.1038/s41598-020-58101-8. Sci Rep. 2020. PMID: 31996704 Free PMC article.
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Kim H, Yang HK, Hwang JM. Kim H, et al. Am J Ophthalmol. 2016 Jul;167:96-7. doi: 10.1016/j.ajo.2016.04.007. Epub 2016 May 7. Am J Ophthalmol. 2016. PMID: 27161987 No abstract available.
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