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[Y chromosome-related genetic diseases].
Yin L, Guan J, Wang Q. Yin L, et al. Among authors: guan j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Mar 10;39(3):350-354. doi: 10.3760/cma.j.cn511374-20210402-00294. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35315051 Chinese.
Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.
Wang H, Zhao Y, Yi Y, Gao Y, Liu Q, Wang D, Li Q, Lan L, Li N, Guan J, Yin Z, Han B, Zhao F, Zong L, Xiong W, Yu L, Song L, Yi X, Yang L, Petit C, Wang Q. Wang H, et al. Among authors: guan j. PLoS One. 2014 Aug 12;9(8):e103133. doi: 10.1371/journal.pone.0103133. eCollection 2014. PLoS One. 2014. PMID: 25116015 Free PMC article.
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
Zong L, Guan J, Ealy M, Zhang Q, Wang D, Wang H, Zhao Y, Shen Z, Campbell CA, Wang F, Yang J, Sun W, Lan L, Ding D, Xie L, Qi Y, Lou X, Huang X, Shi Q, Chang S, Xiong W, Yin Z, Yu N, Zhao H, Wang J, Wang J, Salvi RJ, Petit C, Smith RJ, Wang Q. Zong L, et al. Among authors: guan j. J Med Genet. 2015 Aug;52(8):523-31. doi: 10.1136/jmedgenet-2014-102961. Epub 2015 May 18. J Med Genet. 2015. PMID: 25986071 Free PMC article.
Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment.
Xiong W, Wang D, Gao Y, Gao Y, Wang H, Guan J, Lan L, Yan J, Zong L, Yuan Y, Dong W, Huang S, Wu K, Wang Y, Wang Z, Peng H, Lu Y, Xie L, Zhao C, Wang L, Zhang Q, Gao Y, Li N, Yang J, Yin Z, Han B, Wang W, Chen ZJ, Wang Q. Xiong W, et al. Among authors: guan j. Sci China Life Sci. 2015 Sep;58(9):829-38. doi: 10.1007/s11427-015-4936-y. Epub 2015 Oct 3. Sci China Life Sci. 2015. PMID: 26432548
Temperature sensitive auditory neuropathy.
Zhang Q, Lan L, Shi W, Yu L, Xie LY, Xiong F, Zhao C, Li N, Yin Z, Zong L, Guan J, Wang D, Sun W, Wang Q. Zhang Q, et al. Among authors: guan j. Hear Res. 2016 May;335:53-63. doi: 10.1016/j.heares.2016.01.008. Epub 2016 Jan 15. Hear Res. 2016. PMID: 26778470
4,767 results