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Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing.
Sun ZF, Zhang YH, Guo JF, Sun QY, Mei JP, Zhou HL, Guan LP, Tian JY, Hu ZM, Li JD, Xia K, Yan XX, Tang BS. Sun ZF, et al. Among authors: guan lp. PLoS One. 2014 Sep 2;9(9):e106388. doi: 10.1371/journal.pone.0106388. eCollection 2014. PLoS One. 2014. PMID: 25181484 Free PMC article.
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. 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.
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C. Almoguera B, et al. PLoS One. 2015 Jul 21;10(7):e0133624. doi: 10.1371/journal.pone.0133624. eCollection 2015. PLoS One. 2015. PMID: 26197217 Free PMC article.
89 results