Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
Yan, Huifang, Ji, Haoran, Kubisiak, Thomas, Wu, Ye, Xiao, Jiangxi, Gu, Qiang, Yang, Yanling, Xie, Han, Ji, Taoyun, Gao, Kai, Li, Dongxiao, Xiong, Hui, Shi, Zhen, Li, Ming, Zhang, Yuehua, Duan, Ruoyu, Bao, Xinhua, Jiang, Yuwu, Burmeister, Margit, Wang, Jingmin
Published in Journal of human genetics (01.08.2021)
Published in Journal of human genetics (01.08.2021)
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Superresolution live-cell imaging reveals that the localization of TMEM106B to filopodia in oligodendrocytes is compromised by the hypomyelination-related D252N mutation
Xing, Shijia, Zheng, Xiaolu, Yan, Huifang, Mo, Yanquan, Duan, Ruoyu, Chen, Zhixing, Wang, Kunhao, Gao, Kai, Chen, Tongsheng, Zhao, Shiqun, Wang, Jingmin, Chen, Liangyi
Published in Science China. Life sciences (01.08.2023)
Published in Science China. Life sciences (01.08.2023)
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Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease
Duan, Ruoyu, Ji, Haoran, Yan, Huifang, Wang, Junyu, Zhang, Yu, Zhang, Qian, Li, Dongxiao, Cao, Binbin, Gu, Qiang, Wu, Ye, Jiang, Yuwu, Li, Ming, Wang, Jingmin
Published in Orphanet journal of rare diseases (28.03.2022)
Published in Orphanet journal of rare diseases (28.03.2022)
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Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene
Yan, Huifang, Shi, Zhen, Wu, Ye, Xiao, Jiangxi, Gu, Qiang, Yang, Yanling, Li, Ming, Gao, Kai, Chen, Yinyin, Yang, Xiaoping, Ji, Haoran, Cao, Binbin, Duan, Ruoyu, Jiang, Yuwu, Wang, Jingmin
Published in BMC medical genetics (14.05.2019)
Published in BMC medical genetics (14.05.2019)
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Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review
Zhao, Dan, Liu, Ming, Jiang, Huafang, Song, Tianyu, Xu, Chaolong, Duan, Xin, Duan, Ruoyu, Xu, Han, Liu, Zhimei, Fang, Fang
Published in Frontiers in pediatrics (09.08.2023)
Published in Frontiers in pediatrics (09.08.2023)
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Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy
Yan, Huifang, Yang, Shuyan, Hou, Yiming, Ali, Saima, Escobar, Adrian, Gao, Kai, Duan, Ruoyu, Kubisiak, Thomas, Wang, Junyu, Zhang, Yu, Xiao, Jiangxi, Jiang, Yuwu, Zhang, Ting, Wu, Ye, Burmeister, Margit, Wang, Qiang, Cuajungco, Math P, Wang, Jingmin
Published in Cells (Basel, Switzerland) (09.04.2022)
Published in Cells (Basel, Switzerland) (09.04.2022)
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Study on the Economic Burden of Neurodevelopmental Diseases on Patients With Genetic Diagnosis
Xie, Donghua, Duan, Ruoyu, Li, Chen, Xie, Zhiqun, Wang, Aihua, Xiong, Lili, Wei, Jianhui, Xi, Hui, Fang, Junqu, Yan, Huifang, Wang, Junyu, Zhang, Yu, Mao, Xiao, Wang, Jingmin, Wang, Hua
Published in Frontiers in public health (09.05.2022)
Published in Frontiers in public health (09.05.2022)
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Lactate accumulation induced by Akt2-PDK1 signaling promotes pulmonary fibrosis
Sun, Zhiheng, Ji, Zhihua, He, Wanyu, Duan, Ruoyu, Qu, Junxing, Yu, Guoying
Published in The FASEB journal (31.01.2024)
Published in The FASEB journal (31.01.2024)
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Formation, characterization, and application of natural bioactive phytosterol-based oleogels: A review
Wang, Yuhui, Liu, Shiqi, Zhang, Lulu, Nagib, Ashraf, Li, Qianqian, Geng, Ruyi, Yu, Xinyu, Xu, Ting, Zhang, Shuaijia, Duan, Ruoyu, Ma, Chao, Abd El-Aty, A.M.
Published in Food chemistry (01.10.2024)
Published in Food chemistry (01.10.2024)
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Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history
Jiang, Huafang, Xu, Chaolong, Duan, Ruoyu, Liu, Zhimei, Ren, Xiaotun, Li, Jiuwei, Chen, Chunhong, Wang, Hongmei, Han, Tongli, Tian, Xiaojuan, Duan, Xin, Song, Minhan, Li, Tongyue, Fang, Fang
Published in Journal of human genetics (03.09.2024)
Published in Journal of human genetics (03.09.2024)
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Live-cell superresolution pathology reveals different molecular mechanisms of pelizaeus-merzbacher disease
Zheng, Xiaolu, Duan, Ruoyu, Li, Liuju, Xing, Shijia, Ji, Haoran, Yan, Huifang, Gao, Kai, Wang, Jianyong, Wang, Jingmin, Chen, Liangyi
Published in Science bulletin (30.12.2020)
Published in Science bulletin (30.12.2020)
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A Hospital-Community-Family-Based Telehealth Program for Patients With Chronic Heart Failure: Single-Arm, Prospective Feasibility Study
Guo, Xiaorong, Gu, Xiang, Jiang, Jiang, Li, Hongxiao, Duan, Ruoyu, Zhang, Yi, Sun, Lei, Bao, Zhengyu, Shen, Jianhua, Chen, Fukun
Published in JMIR mHealth and uHealth (13.12.2019)
Published in JMIR mHealth and uHealth (13.12.2019)
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Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study
Sun, Yu, Peng, Jing, Liang, Desheng, Ye, Xiantao, Xu, Na, Chen, Linlin, Yan, Dan, Zhang, Huiwen, Xiao, Bing, Qiu, Wenjuan, Shen, Yiping, Pang, Nan, Liu, Yingdi, Liang, Chen, Qin, Zailong, Luo, Jingsi, Chen, Fei, Wang, Jingmin, Zhang, Zhixin, Wei, Haiyan, Du, Juan, Yan, Huifang, Duan, Ruoyu, Wang, Junyu, Zhang, Yu, Liao, Shixiu, Sun, Kun, Wu, Lingqian, Yu, Yongguo
Published in Human mutation (01.05.2022)
Published in Human mutation (01.05.2022)
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Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus–Merzbacher Disease
Duan, Ruoyu, Li, Liuju, Yan, Huifang, He, Miao, Gao, Kai, Xing, Shijia, Ji, Haoran, Wang, Jianyong, Cao, Binbin, Li, Dongxiao, Xie, Han, Zhao, Shiqun, Wu, Ye, Jiang, Yuwu, Xiao, Jiangxi, Gu, Qiang, Li, Ming, Zheng, Xiaolu, Chen, Liangyi, Wang, Jingmin
Published in Neuroscience (10.11.2021)
Published in Neuroscience (10.11.2021)
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The Thyroid Hormone Analog GC-1 Mitigates Acute Lung Injury by Inhibiting M1 Macrophage Polarization
Li, Bin, Xia, Cong, He, Wanyu, Liu, Jingyi, Duan, Ruoyu, Ji, Zhihua, Pan, Xiaoyue, Zhou, Yanlin, Yu, Guoying, Wang, Lan
Published in Advanced science (07.10.2024)
Published in Advanced science (07.10.2024)
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Interest, emotions, relevance: viewing science centre interactive exhibit design through the lens of situational interest
Duan, Ruoyu Jenny, Walker, Graham J., Orthia, Lindy A.
Published in International journal of science education. Part B. Communication and public engagement (03.07.2021)
Published in International journal of science education. Part B. Communication and public engagement (03.07.2021)
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Skin Rash as the First Manifestation of Pediatric Chronic Neutrophilic Leukemia
ZHOU Yabin, DUAN Ruoyu, YAO Jiafeng, QIN Maoquan, DENG Jianghong, XU Zigang, WU Runhui
Published in 罕见病研究 (01.10.2022)
Published in 罕见病研究 (01.10.2022)
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Behavioural study of SF6 replacement gases in power transmission systems
Jinling Zhang, Ruoyu Duan, Jundun Yan
Published in 2012 Abstracts IEEE International Conference on Plasma Science (01.07.2012)
Published in 2012 Abstracts IEEE International Conference on Plasma Science (01.07.2012)
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