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Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.
Wang H, Wang X, He C, Li H, Qing J, Grati M, Hu Z, Li J, Hu Y, Xia K, Mei L, Wang X, Yu J, Chen H, Jiang L, Liu Y, Men M, Zhang H, Guan L, Xiao J, Zhang J, Liu X, Feng Y. Wang H, et al. Among authors: hu z, hu y. J Hum Genet. 2015 Mar;60(3):119-126. doi: 10.1038/jhg.2014.114. Epub 2015 Jan 15. J Hum Genet. 2015. PMID: 25589040 Free PMC article.
A novel de novo POGZ mutation in a patient with intellectual disability.
Tan B, Zou Y, Zhang Y, Zhang R, Ou J, Shen Y, Zhao J, Luo X, Guo J, Zeng L, Hu Y, Zheng Y, Pan Q, Liang D, Wu L. Tan B, et al. Among authors: hu y. J Hum Genet. 2016 Apr;61(4):357-9. doi: 10.1038/jhg.2015.156. Epub 2016 Jan 14. J Hum Genet. 2016. PMID: 26763879
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Guo H, Peng Y, Hu Z, Li Y, Xun G, Ou J, Sun L, Xiong Z, Liu Y, Wang T, Chen J, Xia L, Bai T, Shen Y, Tian Q, Hu Y, Shen L, Zhao R, Zhang X, Zhang F, Zhao J, Zou X, Xia K. Guo H, et al. Among authors: hu z, hu y. Sci Rep. 2017 Mar 10;7:44155. doi: 10.1038/srep44155. Sci Rep. 2017. PMID: 28281572 Free PMC article. Clinical Trial.
A diagnostic gene chip for hereditary spastic paraplegias.
Luo Y, Du J, Zhan Z, Chen C, Wang J, Hu Y, Hu Z, Xia K, Tang B, Shen L. Luo Y, et al. Among authors: hu z, hu y. Brain Res Bull. 2013 Aug;97:112-8. doi: 10.1016/j.brainresbull.2013.07.002. Epub 2013 Jul 10. Brain Res Bull. 2013. PMID: 23850684
48,185 results
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