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Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. 期刊论文
Human mutation, 2019
作者:  Lulu Li;  Bin Mao;  Shan Li;  Jifang Xiao;  Han Wang
收藏  |  浏览/下载:31/0  |  提交时间:2019/12/17
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease 期刊论文
2019
作者:  Li Jiacheng;  Lu Chaoxia;  Wu Wei;  Liu Yaping;  Wang Rongrong
收藏  |  浏览/下载:19/0  |  提交时间:2020/01/03
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta 期刊论文
2019, 卷号: 40, 期号: 5, 页码: 588-600
作者:  Li, Lulu;  Mao, Bin;  Li, Shan;  Xiao, Jifang;  Wang, Han
收藏  |  浏览/下载:40/0  |  提交时间:2020/01/03
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies 期刊论文
2018, 卷号: 16, 期号: 1, 页码: 241
作者:  Lu, Chaoxia;  Wu, Wei;  Liu, Fang;  Yang, Kunqi;  Li, Jiacheng
收藏  |  浏览/下载:17/0  |  提交时间:2020/01/03
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract 期刊论文
2018, 卷号: 13, 期号: 1, 页码: 94
作者:  Li, Jingyan;  Leng, Yunji;  Han, Shirui;  Yan, Lulu;  Lu, Chaoxia
收藏  |  浏览/下载:3/0  |  提交时间:2020/01/03
Multiple SNPs Detection Based on Lateral Flow Assay for Phenylketonuria Diagnostic 期刊论文
2018, 卷号: 90, 期号: 5, 页码: 3430-3436
作者:  Liu, Xiaonan;  Zhang, Chao;  Liu, Kewu;  Wang, Han;  Lu, Chaoxia
收藏  |  浏览/下载:5/0  |  提交时间:2020/01/03
Hypothalamic-Pituitary-Gonadal Axis on Aging Men and Women: Increasing Total Testosterone in Aging Men 期刊论文
NEUROENDOCRINOLOGY, 2017, 卷号: 104, 期号: 3
作者:  Xia, Fangzhen;  Wang, Ningjian;  Han, Bing;  Li, Qin;  Chen, Yi
收藏  |  浏览/下载:10/0  |  提交时间:2019/12/05
Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome 期刊论文
2017, 卷号: 474, 页码: 54-59
作者:  Li, Jiacheng;  Wu, Wei;  Lu, Chaoxia;  Liu, Yaping;  Wang, Rongrong
收藏  |  浏览/下载:4/0  |  提交时间:2020/01/03
RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance 期刊论文
2017, 卷号: 126, 期号: 4, 页码: 1106-1113
作者:  Zhang, Qian;  Liu, Yaping;  Zhang, Dong;  Wang, Rong;  Zhang, Yan
收藏  |  浏览/下载:5/0  |  提交时间:2020/01/03
Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China 期刊论文
2016, 卷号: 2016, 页码: 6314368
作者:  Cao, Bingyan;  Gong, Chunxiu;  Wu, Di;  Lu, Chaoxia;  Liu, Fang
收藏  |  浏览/下载:8/0  |  提交时间:2020/01/04


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