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收藏A novel NOTCH1 nonsense variant in a bicuspid aortic valve family with intrafamilial clinical heterogeneity在一个存在家族内临床异质性的二叶主动脉瓣家族中发现了一种新型的NOTCH1无义变异。
Chen, Qian; Xu, Zi-yan; Chi, Wu; Chen, Xiang; Zou, Jing; Chen, Ting; Wu, Meng-qian; Ruan, Dan-dan; Yu, Hong-ping; Zhang, Jian-hui; Gao, Mei-zhu; Zhang, Li; Liao, Li-sheng; Fang, Zhu-ting; Lin, Fan; Luo, Jie-wei; Chen, Li
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收藏Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier (vol 69, pg 2109, 2024)非经典性胆固醇酯贮积症显性遗传的家系分析:LIPA I378T杂合子携带者(vol 69, pg 2109, 2024)
Zhang, Jian-hui; Lin, Ai-ping; Zhang, Li; Ruan, Dan-dan; Gao, Mei-zhu; Chen, Qian; Yu, Hong-ping; Liao, Li-sheng; Lin, Xin-fu; Fang, Zhu-ting; Lin, Fan; Lu, Shi-yun; Luo, Jie-wei; Zheng, Xiao-ling; Chen, Meng-shi
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收藏A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia
He, Kai-ying; Yu, Hong-ping; Zou, Jing; Chen, Xiang; Chen, Li; Ruan, Dan-dan; Chen, Ting; Chen, Qian; Zhang, Li; Gao, Mei-zhu; Lin, Xin-fu; Li, Hong; Fang, Zhu-ting; Wu, Jing; Luo, Jie-wei; Liao, Li-sheng
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收藏In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonismATP1A3 p.Ala275Pro突变体引起儿童交替性偏瘫和快速发作的肌张力障碍-帕金森综合征的体外研究
Ruan, Dan-dan; Zou, Jing; Liao, Li-sheng; Ji, Ming-dong; Wang, Ruo-li; Zhang, Jian-hui; Zhang, Li; Gao, Mei-zhu; Chen, Qian; Yu, Hong-ping; Wei, Wen; Li, Yun-fei; Li, Hong; Lin, Fan; Luo, Jie-wei; Lin, Xin-fu
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收藏A pedigree analysis of Rotor hyperbilirubinemia combined with hepatitis B virus infection in a SLCO1B1 and SLCO1B3 gene mutations patient
Lin, Li-zhen; Wu, Qiu-yan; Zhang, Jian-hui; Li, Shi-jie; Wu, Wei-zhen; Ruan, Dan-dan; Wu, Min; Chen, Qian; Liao, Li-sheng; Fang, Zhu-Ting; Luo, Jie-wei; Li, Zuo-an; Li, Zhou; Li, Hong
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收藏Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report
Zhang, Jian-hui; Chen, Hui; Ruan, Dan-dan; Chen, Ying; Zhang, Li; Gao, Mei-zhu; Chen, Qian; Yu, Hong-ping; Wu, Jia-yi; Lin, Xin-fu; Fang, Zhu-ting; Zheng, Xiao-ling; Luo, Jie-wei; Liao, Li-sheng; Li, Hong
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收藏PhcX Is a LqsR-family response regulator that contributes to Ralstonia solanacearum virulence and regulates multiple virulence factors
Liu, Qingmei; Li, Chuhao; Zhang, Xiaohan; Ding, Mengfan; Liao, Xinyue; Yan, Jinli; Hu, Ming; Yang, Leilei; Wang, Xiaoqing; Liao, Lisheng; Li, Peng; Zhou, Xiaofan
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收藏Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt-Hogg-Dube syndrome
Pan, Hong-Hong; Ruan, Dan-Dan; Wu, Min; Chen, Ting; Lu, Tao; Gan, Yu-Mian; Wang, Chen; Liao, Li-Sheng; Lin, Xin-Fu; Chen, Xin; Zhu, Yao-Bin; Fang, Zhu-Ting; Yu, Qing-Hua; Yang, Guo-Kai; Ye, Lie-Fu; Luo, Jie-Wei
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收藏Quorum quenching by a type IVA secretion system effector
Liao, Jinxing; Li, Zihan; Xiong, Dan; Shen, Danyu; Wang, Limin; Lin, Long; Shao, Xiaolong; Liao, Lisheng; Li, Peng; Zhang, Li-Qun; Wang, Hai-Hong; Qian, Guoliang
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收藏A novel bacterial strain Burkholderia sp. F25 capable of degrading diffusible signal factor signal shows strong biocontrol potential一种能够降解可扩散信号因子信号的新型细菌Burkholderia sp. F25具有很强的生物防治潜力
Yu, Hongxiao; Chen, Wen-Juan; Bhatt, Kalpana; Zhou, Zhe; Zhu, Xixian; Liu, Siqi; He, Jiehua; Zhang, Lian-Hui; Chen, Shaohua; Wang, Huishan; Liao, Lisheng
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