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Familial syndrome resembling Aarskog syndrome.
Xu M, Qi M, Zhou H, Yong J, Qiu H, Cong P, Hong X, Li C, Jiang Y, Chen X, Yu Y. Xu M, et al. Among authors: cong p. Am J Med Genet A. 2010 Aug;152A(8):2017-22. doi: 10.1002/ajmg.a.33487. Am J Med Genet A. 2010. PMID: 20607856
LQTS gene LOVD database.
Zhang T, Moss A, Cong P, Pan M, Chang B, Zheng L, Fang Q, Zareba W, Robinson J, Lin C, Li Z, Wei J, Zeng Q; Long QT International Registry Investigators; HVP-China Investigators; Qi M. Zhang T, et al. Among authors: cong p. Hum Mutat. 2010 Nov;31(11):E1801-10. doi: 10.1002/humu.21341. Hum Mutat. 2010. PMID: 20809527 Free PMC article.
LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies.
Zhang L, Zhang Q, Tang Y, Cong P, Ye Y, Chen S, Zhang X, Chen Y, Zhu B, Cai W, Chen S, Cai R, Guo X, Zhang C, Zhou Y, Zou J, Liu Y, Chen B, Yan S, Chen Y, Zhou Y, Ding H, Li X, Chen D, Zhong J, Shang X, Liu X, Qi M, Xu X. Zhang L, et al. Among authors: cong p. Hum Mutat. 2019 Dec;40(12):2221-2229. doi: 10.1002/humu.23863. Epub 2019 Sep 11. Hum Mutat. 2019. PMID: 31286593 Free PMC article.
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Chiang PW, Wang J, Chen Y, Fu Q, Zhong J, Chen Y, Yi X, Wu R, Gan H, Shi Y, Chen Y, Barnett C, Wheaton D, Day M, Sutherland J, Heon E, Weleber RG, Gabriel LA, Cong P, Chuang K, Ye S, Sallum JM, Qi M. Chiang PW, et al. Among authors: cong p. Nat Genet. 2012 Sep;44(9):972-4. doi: 10.1038/ng.2370. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842231
367 results