| 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 |
| 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 |
| 2015 |
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: Eight case reports, including one case of prenatal diagnosis |
Li, Xiyuan;Ding, Yuan;Ma, Yanyan;Liu, Yupeng;Wang, Qiao;Song, Jinqing;Yang, Yanling |
