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Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency 期刊论文
BIOMED RESEARCH INTERNATIONAL, 2019, 页码: 7
作者:  Zhao, Mei;  Hou, Lingling;  Teng, Huajing;  Li, Jinchen;  Wang, Jiesi
收藏  |  浏览/下载:59/0  |  提交时间:2019/06/12
Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 3, 页码: 165-169
作者:  Yang, Mu;  Li, Shujin;  Liu, Wenjing;  Yang, Yeming;  Zhang, Lin
收藏  |  浏览/下载:20/0  |  提交时间:2020/12/24
Exogenous N-acyl-homoserine lactones enhance the expression of flagella of Pseudomonas syringae and activate defence responses in plants 期刊论文
MOLECULAR PLANT PATHOLOGY, 2018, 卷号: 19, 期号: 1, 页码: 104-115
作者:  Cheng, Feifei;  Ma, Anzhou;  Zhuang, Guoqiang;  Fray, Rupert G.
收藏  |  浏览/下载:23/0  |  提交时间:2019/06/21
Identification and function analysis of an anti-lipopolysaccharide factor from the ridgetail prawn Exopalaemon carinicauda 期刊论文
DEVELOPMENTAL AND COMPARATIVE IMMUNOLOGY, 2017, 卷号: 70, 页码: 128-134
作者:  Lv, Xinjia;  Li, Shihao;  Liu, Fei;  Li, Fuhua;  Xiang, Jianhai
收藏  |  浏览/下载:24/0  |  提交时间:2017/07/07
A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis. 期刊论文
ONCOTARGET, 2017
作者:  Wang, Dan;  Liang, Shengyun;  Zhang, Xipeng;  Zhang, Zhao;  Zhao, Guoru
收藏  |  浏览/下载:34/0  |  提交时间:2018/02/02
A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis 期刊论文
Scientific Reports, 2017
作者:  Zhao Zhang;  Shengyun Liang;  Dan Wang;  Shengran Liang;  Yuwei Li
收藏  |  浏览/下载:39/0  |  提交时间:2018/02/02
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures 期刊论文
BMC MEDICAL GENETICS, 2017
Wang, Jiaping; Gao, Hua; Bao, Xinhua; Zhang, Qingping; Li, Jiarui; Wei, Liping; Wu, Xiru; Chen, Yan; Yu, Shujie
收藏  |  浏览/下载:5/0  |  提交时间:2017/12/03
Familial cases and male cases with MECP2 mutations 期刊论文
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2017
Zhang, Qingping; Zhao, Ying; Bao, Xinhua; Luo, Jinjun; Zhang, Xiaoying; Li, Jiarui; Wei, Liping; Wu, Xiru
收藏  |  浏览/下载:10/0  |  提交时间:2017/12/03
A novel splice donor site mutation in epha2 caused congenital cataract in a chinese family 期刊论文
Indian journal of ophthalmology, 2016, 卷号: 64, 期号: 5, 页码: 364-368
作者:  Bu, Juan;  He, Sijie;  Wang, Lejin;  Li, Jiankang;  Liu, Jing
收藏  |  浏览/下载:46/0  |  提交时间:2019/05/09
Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population 期刊论文
SCIENTIFIC REPORTS, 2016, 卷号: 6, 页码: 19432(1-10)
作者:  Zhang, DD;  Zhu, XJ (reprint author), Hosp Univ Elect Sci & Technol China, Sichuan Prov Lab Human Dis Gene Study, Inst Lab Med, Chengdu, Peoples R China.;  Yang, ZL;  Zhu, XJ;  Lu, F
收藏  |  浏览/下载:21/0  |  提交时间:2017/11/09


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