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| Issue Date | Title | Author(s) |
| 2017 | A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2 | Li, Dongxiao; Dong, Hui; Zheng, Hong; Song, Jinqing; Li, Xiyuan; Jin, Ying; Liu, Yupeng; Yang, Yanling |
| 2014 | Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1 | Wang, Qiao; Li, Xiyuan; Ding, Yuan; Liu, Yupeng; Song, Jinqing; Yang, Yanling |
| 8-Jan-2020 | Database Resources of the National Genomics Data Center in 2020 | Zhang, Zhang; Zhao, Wenming; Xiao, Jingfa; Bao, Yiming; He, Shunmin; Zhang, Guoqing; Li, Yixue; Zhao, Guoping; Chen, Runsheng; Gao, Yang; Zhang, Chao; Yuan, Liyun; Xu, Shuhua; Ning, Zhilin; Lu, Yan; Zeng, Jingyao; Yuan, Na; Zhu, Junwei; Pan, Mengyu; Zhang, Hao; Wang, Qi; Shi, Shuo; Jiang, Meiye; Lu, Mingming; Qian, Qiheng; Gao, Qianwen; Shang, Yunfei; Wang, Jinyue; Du, Zhenglin; Tian, Dongmei; Wang, Pei; Tang, Bixia; Li, Cuiping; Teng, Xufei; Liu, Xiaonan; Zou, Dong; Song, Shuhui; Xiong, Zhuang; Li, Mengwei; Yang, Fei; Ma, Yingke; Sang, Jian; Li, Zhaohua; Li, Rujiao; Wang, Zhonghuang; Zhu, Qianghui; Li, Xin; Zhang, Sisi; Kang, Hailong; Dong, Lili; Ying, Cui; Duan, Guangya; Li, Menghua; Zhi, Xiaoyang; Ling, Yunchao; Cao, Ruifang; Jiang, Zhao; Zhou, Haokui; Lv, Daqing; Liu, Wan; Klenk, Hans-Peter; Zhang, Yadong; Zhang, Zhewen; Chen, Tingting; Chen, Xu; Wang, Yanqing; Wu, Song; Gong, Zheng; Chen, Meili; Fang, Shuangsang; Zhang, Lili; Guo, Jincheng; Niu, Yiwei; Wu, Yang; Li, Hui; Zhao, Lianhe; Li, Xiyuan; Teng, Xueyi; Sun, Xianhui; Sun, Liang; Zhao, Yi; Wang, Jiajia; Zhang, Peng; Li, Yanyan; Zheng, Yu; Chen, Xiaomin; Xue, Hua; Teng, Yiheng; Kang, Quan; Hao, Yajing; Cao, Jiabao; Liu, Lin; Li, Zhao; Li, Qianpeng; Du, Qiang; Abbasi, Amir A.; Shireen, Huma; Pervaiz, Nashaiman; Batool, Fatima; Raza, Rabail Z.; Ma, Lina; Niu, Guangyi; Zhang, Yuansheng; Zhu, Tongtong; Hao, Lili; Wang, Guoliang; Yan, Jun; Li, Chen; Wang, Zhennan; Wang, Xiangfeng; Li, Zhonghai; Zhang, Yang; Wang, Houling; Zhang, Yi; Xia, Xinli; Guo, Hongwei; Zhu, Junwen; Zhou, Qing; Kang, Hongen; Lan, Li; Zhang, Xin; Xue, Yongbiao; Sun, Yubin; Zhai, Shuang; Yu, Lei; Sun, Mingyuan; Chen, Huanxin; Hu, Hui; Guo, An-Yuan; Lin, Shaofeng; Xue, Yu; Wang, Chenwei; Ning, Wanshan; Zhang, Xinxin; Xiao, Yun; Li, Xia; Tu, Yiran; Wu, Wanying; Ji, Peifeng; Zhao, Fangqing; Luo, Hao; Gao, Feng; Guo, Yaping; Yuan, Hao; Zhang, Yong E.; Zhang, Qiong; Zhou, Jiaqi; Huang, Zhou; Cui, Qinghua; Miao, Ya-Ru; Ruan, Chen; Yuan, Chunhui; Chen, Ming; Jin, Jin-Pu; Tian, Feng; Gao, Ge; Shi, Ying; Yao, Lan; Li, Xiangshang; Li, Chuan-Yun; Tang, Qing; Peng, Di |
| 2010 | Direct measurement of propagation losses in silver nanowires | Ma, Yaoguang; Li, Xiyuan; Yu, Huakang; Tong, Limin; Gu, Ying; Gong, Qihuang |
| Oct-2020 | Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome | Li, Dongxiao; Song, Jinqing; Li, Xiyuan; Liu, Yi; Dong, Hui; Kang, Lulu; Liu, Yupeng; Zhang, Yao; Jin, Ying; Guan, Hanzhou; Zhou, Chongchen; Yang, Yanling |
| 2015 | Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases | Li, Xiyuan; Ding, Yuan; Liu, Yupeng; Ma, Yanyan; Song, Jinqing; Wang, Qiao; Li, Mengqiu; Qin, Yaping; Yang, Yanling |
| 2015 | Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation | Fang, Hezhi; Shi, Hao; Li, Xiyuan; Sun, Dayan; Li, Fengjie; Li, Bin; Ding, Yuan; Ma, Yanyan; Liu, Yupeng; Zhang, Yao; Shen, Lijun; Bai, Yidong; Yang, Yanling; Lu, Jianxin |
| Aug-2021 | Expert consensus of perioperative intensive care and management of critically ill cancer patients (2021) | Wang, Haijun; Wang, Hongzhi; Chen, Wei; Zhao, Heling; Qian, Yuanyu; Shen, Limin; Li, Shuangling; Duan, Jun; Wang, Zhiqiang; Cui, Keliang; Wang, Quan; Xue, Xiaoyan; Li, Xiyuan; Hua, Liwei; Zhang, Yingping; Feng, Yongshun; He, Huaiwu; Li, Lei; Zhang, Nan; Dong, Jun; Bian, Weishuai; Lu, Feiping; Wang, Donghao; Long, Yun; Xing, Xuezhong |
| 2015 | First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type | Liu, Yupeng; Wang, Qiao; Li, Xiyuan; Ding, Yuan; Song, Jinqing; Yang, Yanling |
| 2015 | The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1 | Wang, Qiao; Li, Xiyuan; Ding, Yuan; Liu, Yupeng; Qin, Yaping; Yang, Yanling |
| 2016 | Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria | Liu, Yupeng; Li, Xiyuan; Wang, Qiao; Ding, Yuan; Song, Jinqing; Yang, Yanling |
| 16-May-2024 | Loss-of-function mutation in <i>DDX53</i> associated with hereditary spastic paraplegia-like disorder | Yuan, Xiangshu; Wang, Ya; Li, Xiyuan; Zhong, Sheng; Zhou, Danyi; Lin, Xianlong; Fang, Hezhi; Yang, Yanling; Wang, Maofeng |
| 2017 | Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome | Xu, Bing; Li, Xiyuan; Du, Miaomiao; Zhou, Chao; Fang, Hezhi; Lyu, Jianxin; Yang, Yanling |
| Apr-2020 | One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency | Li, Xiyuan; Ma, Rui; Liu, Yi; Kang, Lulu; He, Ruxuan; Song, Jinqing; Ren, Jing; Li, Yang; Huang, Min; Men, Jianlong; Yang, Yanling |
| 2016 | Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses | Ding, Yuan; Li, Xiyuan; Liu, Yupeng; Hua, Ying; Song, Jinqing; Wang, Liwen; Li, Mengqiu; Qin, Yaping; Yang, Yanling |
| Apr-2020 | Somatic variants in new candidate genes identified in focal cortical dysplasia type II | Zhang, Zhongbin; Gao, Kai; Liu, Qingzhu; Zhou, Jiapeng; Li, Xiyuan; Lang, Na; Liu, Ming; Wang, Tianshuang; Zhang, Jie; Wang, Hui; Dong, Ying; Ji, Taoyun; Wang, Shuang; Liu, Xiaoyan; Jiang, Yuwu; Cai, Lixin; Wu, Ye |
| 2015 | Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses | Li, Xiyuan; Ding, Yuan; Liu, Yupeng; Zhang, Yao; Song, Jinqing; Wang, Qiao; Li, Mengqiu; Qin, Yaping; Huang, Shangzhi; Yang, Yanling |
| 2016 | succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses (vol 574, pg 41, 2015) | Li, Xiyuan; Ding, Yuan; Liu, Yupeng; Zhang, Yao; Song, Jinqing; Wang, Qiao; Li, Mengqiu; Qin, Yaping; Huang, Shangzhi; Yang, Yanling |
| 2018 | SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences | Li, Yuanyuan; Wen, Shumeng; Li, Dongxiao; Xie, Jie; Wei, Xiujuan; Li, Xiyuan; Liu, Yi; Fang, Hezhi; Yang, Yanling; Lyu, Jianxin |
| 3-Aug-2020 | Variable phenotypes and outcomes associated with theMMACHCc.609G>A homologous mutation: long term follow-up in a large cohort of cases | He, Ruxuan; Mo, Ruo; Shen, Ming; Kang, Lulu; Song, Jinqing; Liu, Yi; Chen, Zhehui; Zhang, Hongwu; Yao, Hongxin; Liu, Yupeng; Zhang, Yao; Dong, Hui; Jin, Ying; Li, Mengqiu; Qin, Jiong; Zheng, Hong; Chen, Yongxing; Li, Dongxiao; Wei, Haiyan; Li, Xiyuan; Zhang, Huifeng; Huang, Min; Zhang, Chunyan; Jiang, Yuwu; Liang, Desheng; Tian, Yaping; Yang, Yanling |
