Canlyniadau Chwilio - Yao, Fengxia

MutScreener: primer design tool for PCR-direct sequencing gan Yao, Fengxia, Zhang, Ruifang, Zhu, Zanhua, Xia, Kun, Liu, Chunyu

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Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations gan Liu, Shuang, Zhang, Weimin, Shi, Huiping, Yao, Fengxia, Wei, Min, Qiu, Zhengqing

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Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome gan Ling, Chao, Sui, Ruifang, Yao, Fengxia, Wu, Zhihong, Zhang, Xue, Zhang, Shuyang

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A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter’s syndrome with 4 years follow-up gan Ma, Mingsheng, Zhang, Mengqi, Zhou, Yu, Yao, Fengxia, Wei, Min, Li, Zhenghong, Qiu, Zhengqing

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SNP Cutter: a comprehensive tool for SNP PCR–RFLP assay design gan Zhang, Ruifang, Zhu, Zanhua, Zhu, Hongming, Nguyen, Tu, Yao, Fengxia, Xia, Kun, Liang, Desheng, Liu, Chunyu

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Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneou... gan Gao, Jinsong, Liu, Congcong, Yao, Fengxia, Hao, Na, Zhou, Jing, Zhou, Qian, Zhang, Liang, Liu, Xinyan, Bian, Xuming, Liu, Juntao

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Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7 gan Zou, Xuan, Yao, Fengxia, Li, Fengrong, Wu, Shijing, Li, Hui, Sun, Zixi, Zhu, Tian, Wei, Xing, Li, Donghui, Sui, Ruifang

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Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies gan Ling, Chao, Dai, Yi, Fang, Li, Yao, Fengxia, Liu, Zhe, Qiu, Zhengqing, Cui, Liying, Xia, Fan, Zhao, Chen, Zhang, Shuyang, Wang, Kai, Zhang, Xue

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Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study gan Wei, Xiaoming, Dai, Yi, Yu, Ping, Qu, Ning, Lan, Zhangzhang, Hong, Xiafei, Sun, Yan, Yang, Guanghui, Xie, Shuqi, Shi, Quan, Zhou, Hanlin, Zhu, Qian, Chu, Yuxing, Yao, Fengxia, Wang, Jinming, He, Jingni, Yang, Yun, Liang, Yu, Yang, Yi, Qi, Ming, Yang, Ling, Wang, Wei, Wu, Haitao, Duan, Jing, Shen, Cheng, Wang, Jun, Cui, Liying, Yi, Xin

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