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BMPR1B mutation causes Pierre Robin sequence.
Yang Y, Yuan J, Yao X, Zhang R, Yang H, Zhao R, Guo J, Jin K, Mei H, Luo Y, Zhao L, Tu M, Zhu Y. Yang Y, et al. Among authors: zhao r, zhao l. Oncotarget. 2017 Apr 18;8(16):25864-25871. doi: 10.18632/oncotarget.16531. Oncotarget. 2017. PMID: 28418932 Free PMC article.
First report of HGD mutations in a Chinese with alkaptonuria.
Yang YJ, Guo JH, Chen WJ, Zhao R, Tang JS, Meng XH, Zhao L, Tu M, He XY, Wu LQ, Zhu YM. Yang YJ, et al. Among authors: zhao r, zhao l. Gene. 2013 Apr 15;518(2):467-9. doi: 10.1016/j.gene.2013.01.020. Epub 2013 Jan 24. Gene. 2013. PMID: 23353776
SNAI2 mutation causes human piebaldism.
Yang YJ, Zhao R, He XY, Li LP, Chen W, Wang KW, Zhao L, Tu M, Tang JS, Xie ZG, Zhu YM. Yang YJ, et al. Among authors: zhao r, zhao l. Am J Med Genet A. 2014 Mar;164A(3):855-7. doi: 10.1002/ajmg.a.36332. Epub 2014 Jan 17. Am J Med Genet A. 2014. PMID: 24443330 No abstract available.
Interstitial deletion 5q14.3q21.3 associated with lethal epilepsy.
Yang YJ, Yao X, Guo J, Zhao R, He XY, Zhao L, Tu M, Zhu YM. Yang YJ, et al. Among authors: zhao r, zhao l. Am J Med Genet A. 2015 Apr;167A(4):866-71. doi: 10.1002/ajmg.a.36991. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25706510
First report of CTNS mutations in a Chinese family with infantile cystinosis.
Yang YJ, Hu Y, Zhao R, He X, Zhao L, Tu M, Zhou L, Guo J, Wu L, Zhao T, Zhu YM. Yang YJ, et al. Among authors: zhao t, zhao r, zhao l. ScientificWorldJournal. 2015;2015:309410. doi: 10.1155/2015/309410. Epub 2015 Mar 17. ScientificWorldJournal. 2015. PMID: 25866837 Free PMC article.
34,861 results
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