Search Results - Yixi Sun
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Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet–Biedl Syndrome Type I (BBS1) due to Missense Mutation by Kai Yan, Kai Yan, Yixi Sun, Yixi Sun, Yanmei Yang, Yanmei Yang, Bei Liu, Bei Liu, Minyue Dong, Minyue Dong
Published in Frontiers in Genetics (2022-05-01)Get full text
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Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis by Linyan Zhu, Linyan Zhu, Yixi Sun, Yixi Sun, Yuqing Xu, Yuqing Xu, Pengzhen Jin, Pengzhen Jin, Huiqing Ding, Minyue Dong, Minyue Dong
Published in Frontiers in Pediatrics (2023-10-01)Get full text
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Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele by Yixi Sun, Yixi Sun, Yixi Sun, Yangwen Qian, Yangwen Qian, Yangwen Qian, Hai-Xi Sun, Min Chen, Min Chen, Min Chen, Yuqin Luo, Yuqin Luo, Yuqin Luo, Xiaojing Xu, Kai Yan, Kai Yan, Kai Yan, Liya Wang, Liya Wang, Liya Wang, Junjie Hu, Junjie Hu, Junjie Hu, Minyue Dong, Minyue Dong, Minyue Dong
Published in Frontiers in Genetics (2022-10-01)Get full text
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Single‐cell landscape analysis reveals systematic senescence in mammalian Down syndrome by Yao Chen, Yanyu Xiao, Yanye Zhang, Renying Wang, Feixia Wang, Huajing Gao, Yifeng Liu, Runju Zhang, Huiyu Sun, Ziming Zhou, Siwen Wang, Kai Chen, Yixi Sun, Mixue Tu, Jingyi Li, Qiong Luo, Yiqing Wu, Linling Zhu, Yun Huang, Xiao Sun, Guoji Guo, Dan Zhang
Published in Clinical and Translational Medicine (2023-07-01)Get full text
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Validation and depth evaluation of recurrent neural network‐based ultra low‐pass genome sequencing for the detection of absence of heterozygosity: A multi‐centre study of 409 cases... by Yeqing Qian, Jianjun Zhu, Zhiguo Tang, Yan Sun, Zhonghua Wang, Fei Tang, Yun Yang, Linlin Fan, Yixi Sun, Bei Liu, Min Chen, Yuqin Luo, Junjie Hu, Kai Yan, Jianfen Man, Lina Wang, Cangcang Jia, Ping Tang, Xinyi Zhu, Chaohong Wang, Junxiang Tang, Yuanyuan Xia, Xueqin Guo, Kang Zhang, Xiaoli Wang, Suping Li, Lijie Song, Jiansheng Zhu, Minyue Dong
Published in Clinical and Translational Medicine (2024-07-01)Get full text
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