Rett syndrome-causing mutations compromise MeCP2-mediated liquid–liquid phase separation of chromatin
Wang, Liang, Hu, Mingli, Zuo, Mei-Qing, Zhao, Jicheng, Wu, Di, Huang, Li, Wen, Yongxin, Li, Yunfan, Chen, Ping, Bao, Xinhua, Dong, Meng-Qiu, Li, Guohong, Li, Pilong
Published in Cell research (01.05.2020)
Published in Cell research (01.05.2020)
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One-step synthesis of zinc–cobalt layered double hydroxide (Zn–Co-LDH) nanosheets for high-efficiency oxygen evolution reaction
Qiao, Chen, Zhang, Yuan, Zhu, Youqi, Cao, Chuanbao, Bao, Xinhua, Xu, Jiaqiang
Published in Journal of materials chemistry. A, Materials for energy and sustainability (01.01.2015)
Published in Journal of materials chemistry. A, Materials for energy and sustainability (01.01.2015)
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The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China
Wen, Yongxin, Wang, Jiaping, Zhang, Qingping, Chen, Yan, Bao, Xinhua
Published in Journal of human genetics (01.09.2020)
Published in Journal of human genetics (01.09.2020)
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Temperature and rainfall amount effects on hydrogen and oxygen stable isotope in precipitation
Yang, Qingchun, Mu, Haokun, Guo, Junchun, Bao, Xinhua, Martín, Jordi Delgado
Published in Quaternary international (10.06.2019)
Published in Quaternary international (10.06.2019)
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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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Journal Article
Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation
Wang, Jiaping, Zhang, Qingping, Chen, Yan, Yu, Shujie, Wu, Xiru, Bao, Xinhua, Wen, Yongxin
Published in BMC medical genetics (30.10.2018)
Published in BMC medical genetics (30.10.2018)
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Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)
Jiao, Xianru, Xue, Jiao, Gong, Pan, Bao, Xinhua, Wu, Ye, Zhang, Yuehua, Jiang, Yuwu, Yang, Zhixian
Published in Orphanet journal of rare diseases (27.03.2020)
Published in Orphanet journal of rare diseases (27.03.2020)
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Journal Article
Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature
Duan, Lifen, Ye, Lei, Yin, Runxiu, Sun, Ying, Yu, Wei, Zhang, Yi, Zhong, Haiyan, Bao, Xinhua, Tian, Xin
Published in BMC pediatrics (07.03.2024)
Published in BMC pediatrics (07.03.2024)
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Journal Article
Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort
Zhang, Qingping, Yang, Xiaoxu, Wang, Jiaping, Li, Jiarui, Wu, Qixi, Wen, Yongxin, Zhao, Ying, Zhang, Xiaoying, Yao, He, Wu, Xiru, Yu, Shujie, Wei, Liping, Bao, Xinhua
Published in Genetics in medicine (01.06.2019)
Published in Genetics in medicine (01.06.2019)
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Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis
Wei, Cuijie, Liang, Zhenwei, Wu, Ying, Liu, Shan, Qiu, Jianxing, Meng, Lingchao, Li, Chunde, Li, Shuang, Bao, Xinhua, Wang, Zhaoxia, Chen, Luzeng, Xiong, Hui
Published in Orphanet journal of rare diseases (17.02.2023)
Published in Orphanet journal of rare diseases (17.02.2023)
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Journal Article
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures
Wang, Jiaping, Gao, Hua, Bao, Xinhua, Zhang, Qingping, Li, Jiarui, Wei, Liping, Wu, Xiru, Chen, Yan, Yu, Shujie
Published in BMC medical genetics (18.09.2017)
Published in BMC medical genetics (18.09.2017)
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Journal Article
Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review
Wang, Jiaping, Wang, Junling, Han, Xiaodi, Liu, Zhimei, Ma, Yanli, Chen, Guohong, Zhang, Haoya, Sun, Dan, Xu, Ruifeng, Liu, Yi, Zhang, Yuqin, Wen, Yongxin, Bao, Xinhua, Chen, Qian, Fang, Fang
Published in Frontiers in genetics (01.07.2021)
Published in Frontiers in genetics (01.07.2021)
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Journal Article
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients
Ji, Haoran, Li, Dongxiao, Wu, Ye, Zhang, Quanli, Gu, Qiang, Xie, Han, Ji, Taoyun, Wang, Huifang, Zhao, Lu, Zhao, Haijuan, Yang, Yanling, Feng, Hongchun, Xiong, Hui, Ji, Jinhua, Yang, Zhixian, Kou, Liping, Li, Ming, Bao, Xinhua, Chang, Xingzhi, Zhang, Yuehua, Li, Li, Li, Huijuan, Niu, Zhengping, Wu, Xiru, Xiao, Jiangxi, Jiang, Yuwu, Wang, Jingmin
Published in PloS one (16.02.2018)
Published in PloS one (16.02.2018)
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Pediatric Autoimmune Encephalitis: Case Series From Two Chinese Tertiary Pediatric Neurology Centers
Zhang, Jianzhao, Ji, Taoyun, Chen, Qian, Jiang, Yanan, Cheng, Huan, Zheng, Ping, Ma, Wenqiang, Lei, Ting, Zhang, Yao, Jin, Yiwen, Wei, Cuijie, Wu, Ye, Chang, Xingzhi, Bao, Xinhua, Zhang, Yuehua, Xiong, Hui, Ji, Xinna, Feng, Shuo, Ren, Haitao, Yang, Jian, Jiang, Yuwu
Published in Frontiers in neurology (22.08.2019)
Published in Frontiers in neurology (22.08.2019)
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Journal Article
Rett and Rett‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene
Wang, Jiaping, Zhang, Qingping, Chen, Yan, Yu, Shujie, Wu, Xiru, Bao, Xinhua
Published in Molecular genetics & genomic medicine (01.11.2019)
Published in Molecular genetics & genomic medicine (01.11.2019)
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Journal Article
One-Step Synthesis of Hierarchical Cantaloupe-like AlOOH Superstructures via a Hydrothermal Route
Feng, Yongli, Lu, Wencong, Zhang, Liangmiao, Bao, Xinhua, Yue, Baohua, lv, Yong, Shang, Xingfu
Published in Crystal growth & design (01.04.2008)
Published in Crystal growth & design (01.04.2008)
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A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature
Zhang, Meijiao, Zhu, Liping, Wang, Huiping, Hao, Ying, Zhang, Qingping, Zhao, Chunyan, Bao, Xinhua
Published in Frontiers in pediatrics (17.01.2023)
Published in Frontiers in pediatrics (17.01.2023)
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A study on the interaction of mud acid with rock for chemical stimulation in an enhanced geothermal system
Na, Jin, Xu, Tianfu, Jiang, Zhenjiao, Bao, Xinhua, Yongdong, Wu, Feng, Bo
Published in Environmental earth sciences (01.06.2016)
Published in Environmental earth sciences (01.06.2016)
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