1.Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

Zong, L, Guan, J, Ea     More...

Zong, L, Guan, J, Ealy, M, Zhang, QJ, Wang, DY, Wang, HY, Zhao, YL, Shen, ZR, Campbell, CA, Wang, FC, Yang, J, Sun, W, Lan, L, Ding, DL, Xie, LY, Qi, Y, Lou, X, Huang, XS, Shi, Q, Chang, SH, Xiong, WP, Yin, ZF, Yu, N, Zhao, H, Wang, J, Wang, J, Salvi, RJ, Petit, C, Smith, RJH, Wang, QJ     Less

JOURNAL OF MEDICAL GENETICS[0022-2593], Published 2015, Volume 52, Issue 8, Pages 523-531

收錄情况： WOS

WOS核心合集引用: 73  2022影響因子:  4.0  发表年影響因子:  5.650 

2.Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma

Guo, BR, Zhang, X, C     More...

Guo, BR, Zhang, X, Chen, G, Zhang, JG, Sun, LD, Du, WD, Zhang, Q, Cui, Y, Zhu, J, Tang, XF, Xiao, R, Liu, Y, Li, M, Tang, HY, Yang, X, Cheng, H, Li, M, Gao, M, Li, P, Wang, JB, Xu, FP, Zuo, XB, Zheng, XD, Zhang, XG, Yang, L, Liu, JJ, Wang, J, Yang, S, Zhang, XJ     Less

JOURNAL OF MEDICAL GENETICS[0022-2593], Published 2012, Volume 49, Issue 9, Pages 563-568

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WOS核心合集引用: 25  2022影響因子:  4.0  发表年影響因子:  5.703 

3.Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis

Zhang, X, Guo, BR, C     More...

Zhang, X, Guo, BR, Cai, LQ, Jiang, T, Sun, LD, Cui, Y, Hu, JC, Zhu, J, Chen, G, Tang, XF, Sun, GQ, Tang, HY, Liu, Y, Li, M, Li, QB, Cheng, H, Gao, M, Li, P, Yang, X, Zuo, XB, Zheng, XD, Wang, PG, Wang, J, Wang, J, Liu, JJ, Yang, S, Li, YR, Zhang, XJ     Less

JOURNAL OF MEDICAL GENETICS[0022-2593], Published 2012, Volume 49, Issue 12, Pages 727-730

收錄情况： WOS

WOS核心合集引用: 14  2022影響因子:  4.0  发表年影響因子:  5.703