CORC

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CORC

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Gene spectrum analysis of thalassemia for people residing in northern China 期刊论文
2019, 卷号: 20, 期号: 1, 页码: 86
作者:  Yang, Zhuo;  Zhou, Wenzhe;  Cui, Quexuan;  Qiu, Ling;  Han, Bing
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/03
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation 期刊论文
2019, 卷号: 104, 期号: 5, 页码: 925-935
作者:  Guo, Long;  Bertola, Debora Romeo;  Takanohashi, Asako;  Saito, Asuka;  Segawa, Yuko
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
Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia 期刊论文
2019, 卷号: 7, 期号: 6, 页码: e680
作者:  Yang, Zhuo;  Cui, Quexuan;  Zhou, Wenzhe;  Qiu, Ling;  Han, Bing
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants 期刊论文
2019, 卷号: 34, 期号: 3, 页码: 733-745
作者:  Yan, Yousheng;  Zhang, Chuan;  Jin, Xiaohua;  Zhang, Qinhua;  Zheng, Lei
收藏  |  浏览/下载：7/0  |  提交时间：2020/01/03
Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation 期刊论文
2018, 卷号: 72, 期号: 16, 页码: C225-C226
作者:  Sun Di;  Zhou Bing-Yang;  Li Sha;  Sun Ning-Ling;  Hua Qi
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03
Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation 会议论文
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2018-10-16
作者:  Sun, Di;  Zhou, Bingyang;  Li, Sha;  Guo, Yuanlin;  Wu, Naqiong
收藏  |  浏览/下载：25/0  |  提交时间：2020/01/03
Mutation of the cellular adhesion molecule NECL2 is associated with neuromyelitis optica spectrum disorder 期刊论文
2018, 卷号: 388, 页码: 133-138
作者:  Xu, Yan;  Li, Liang;  Ren, Hai-tao;  Yin, Bin;  Yuan, Jian-gang
收藏  |  浏览/下载：5/0  |  提交时间：2020/01/03
Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing (vol 28, pg 2985, 2017) 期刊论文
2018, 卷号: 29, 期号: 1, 页码: 261-261
作者:  Liu, Y.;  Asan;  Ma, D.;  Lv, F.;  Xu, X.
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing 期刊论文
2017, 卷号: 28, 期号: 10, 页码: 2985-2995
作者:  Liu, Y.;  Asan;  Ma, D.;  Lv, F.;  Xu, X.
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03

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