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CORC

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Steroid metabolism gene variants and their genotype-phenotype correlations in Chinese early-onset hypertension patients 期刊论文
2019, 卷号: 42, 期号: 10, 页码: 1536-1543
作者:  Qin Fang;  Liu Kai;  Zhang Ce;  Sun Xiaolu;  Zhang Yang
收藏  |  浏览/下载：52/0  |  提交时间：2020/01/03
Detection of ten novel FBN1 mutations in Chinese patients with typical or incomplete Marfan syndrome and an overview of the genotype-phenotype correlations 期刊论文
2019, 卷号: 293, 页码: 186-191
作者:  Gao, Linggen;  Tian, Tao;  Zhou, Xianliang;  Fan, Li;  Wang, Rong
收藏  |  浏览/下载：8/0  |  提交时间：2020/01/03
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
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations 期刊论文
2019, 卷号: 40, 期号: 6, 页码: 801-815
作者:  Zhou, Wei-Zhen;  Zhang, Jie;  Li, Ziyi;  Lin, Xiaojing;  Li, Jiarui
收藏  |  浏览/下载：9/0  |  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 diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations 期刊论文
2017, 卷号: 45, 期号: 2, 页码: 481-492
作者:  Zhang Bo;  Lu Lin;  Lu Zhaolin
收藏  |  浏览/下载：5/0  |  提交时间：2020/01/04
Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations 期刊论文
2016, 卷号: 11, 期号: 9, 页码: e0163204
作者:  Liu, Shuang;  Zhang, Weimin;  Shi, Huiping;  Yao, Fengxia;  Wei, Min
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/04
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions 期刊论文
2015, 卷号: 17, 期号: 4, 页码: 262-270
作者:  Zaneveld, Jacques;  Siddiqui, Sorath;  Li, Huajin;  Wang, Xia;  Wang, Hui
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/13
Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing 期刊论文
2015, 卷号: 4, 期号: 7
作者:  Wu, Wei;  Lu, Chao-Xia;  Wang, Yi-Ning;  Liu, Fang;  Chen, Wei
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/13
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations 期刊论文
2013, 卷号: 34, 期号: 11, 页码: 1537-1546
作者:  Mackay, Donna S.;  Borman, Arundhati Dev;  Sui, Ruifang;  van den Born, L. Ingeborgh;  Berson, Eliot L.
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/13

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