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Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female

Shen, Lu; LIu, Cenying; Gao, Ming; Li, Hongmei; Zhang, Yaowen; Tian, Qi; Ni, Hailun; Peng, Pengwei; Zhao, Rongjuan; Hu, Zhengmao; Gao, Yuan; Xia, Kun; Bo, Qifang^*; Guo, Hui^*

Journal of Dermatology, 2019, 46(8): 731-733.

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Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis

Li, Meng^#; Mei, Lingyun^#; He, Chufeng; Chen, Hongsheng; Cai, Xinzhang; Liu, Yalan; Tian, Runyi; Tian, Qi; Song, Jian; Jiang, Lu; Liu, Chang; Wu, Hong; Li, Taoxi; Liu, Jing; Li, Ximan; Yi, Yifang; Yan, Denise; Blanton, Susan H.; Hu, Zhengmao; Liu, Xuezhong; Li, Jiada; Ling, Jie^*; Feng, Yong^*

Genetics in Medicine, 2019, 21(12): 2744-2754.

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A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

Tian, Qi^#; Li, Yunping^#; Kousar, Rizwana; Guo, Hui; Peng, Fenglan; Zheng, Yu; Yang, Xiaohua; Long, Zhigao; Tian, Runyi; Xia, Kun; Lin, Haiying^*; Pan, Qian^*

BMC Medical Genetics, 2017, 18(1): 2.

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Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort

Guo, Hui^#; Peng, Yu^#; Hu, Zhengmao; Li, Ying; Xun, Guanglei; Ou, Jianjun; Sun, Liangdan; Xiong, Zhimin; Liu, Yanling; Wang, Tianyun; Chen, Jingjing; Xia, Lu; Bai, Ting; Shen, Yidong; Tian, Qi; Hu, Yiqiao; Shen, Lu; Zhao, Rongjuan; Zhang, Xuejun; Zhang, Fengyu; Zhao, Jingping; Zou, Xiaobing^*; Xia, Kun^*

Scientific Reports, 2017, 7(1): 44155.

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Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia

Guo Hui^#; Tong Ping^#; Liu Yanling^#; Xia Lu; Wang Tianyun; Tian Qi; Li Ying; Hu Yidiao; Zheng Yu; Jin Xuemin; Li Yunping; Xiong Wei; Tang Beisha; Feng Yong; Li Jiada; Pan Qian; Hu Zhengmao^*; Xia Kun^*

Genetics in Medicine, 2015, 17(4): 300-306.

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Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract

Guo H^#; Tong P^#; Peng Y; Wang T; Liu Y; Chen J; Li Y; Tian Q; Hu Y; Zheng Y; Xiao L; Xiong W; Pan Q; Hu Z^*; Xia K^*

Clinical Genetics, 2014, 86(6): 575-579.

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New ZNF644 mutations identified in patients with high myopia

Xiang Xinying^#; Wang Tianyun^#; Tong Ping; Li Yunping; Guo Hui; Wan Anran; Xia Lu; Liu Yanling; Li Ying; Tian Qi; Shen Lu; Cai Xinzhang; Tian Lei; Jin Xuemin; Xia Kun^*; Hu Zhengmao^*

Molecular Vision, 2014, 20: 939-946.

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SLC39A5 mutations interfering with the BMP/TGF-beta pathway in non-syndromic high myopia

Guo Hui^#; Jin Xuemin^#; Zhu Tengfei^#; Wang Tianyun; Tong Ping; Tian Lei; Peng Yu; Sun Liangdan; Wan Anran; Chen Jingjing; Liu Yanling; Li Ying; Tian Qi; Xia Lu; Zhang Lusi; Pan Yongcheng; Lu Lina; Liu Qiong; Shen Lu; Li Yunping; Xiong Wei; Li Jiada; Tang Beisha; Feng Yong; Zhang Xuejun; Zhang Zhuohua; Pan Qian; Hu Zhengmao^*; Xia Kun^*

Journal of Medical Genetics, 2014, 51(8): 518-525.

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10种常见细菌基因检测膜条的研制

朱飞舟; 陈利玉; 刘新发; 田奇; 谈成; 欧阳方丹; 吴正理^*; 陈汉春^*

微生物学杂志, 2011, (04): 58-63.

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