CORC

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CORC

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Defective EMC1 drives abnormal retinal angiogenesis via Wnt/b-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy 期刊论文
GENES & DISEASES, 2023, 卷号: 10, 期号: 6, 页码: 2572
作者:  Li, Shujin;  Yang, Mu;  Zhao, Rulian;  Peng, Li;  Liu, Wenjing
收藏  |  浏览/下载：5/0  |  提交时间：2023/12/01
The Kengyilia hirsuta karyotype polymorphisms as revealed by FISH with tandem repeats and single-gene probes 期刊论文
COMPARATIVE CYTOGENETICS, 2021, 卷号: 15, 期号: 4, 页码: 375
作者:  Tao, XY;  Liu, B;  Dou, QW
收藏  |  浏览/下载：4/0  |  提交时间：2022/12/02
A novel deletion with two pathogenic variants of UGT1A1 causing Crigler-Najjar syndrome in two unrelated Chinese 期刊论文
CLINICAL BIOCHEMISTRY, 2019, 卷号: 71
作者:  Li, Wanxing;  Yang, Lin;  Zhou, Wenhao;  Zhou, Youyou
收藏  |  浏览/下载：17/0  |  提交时间：2019/12/05
A novel heterozygous large deletion of MSH6 gene in a Chinese family with Lynch syndrome 期刊论文
GENE, 2019, 卷号: 704
作者:  Liu, Yuanyuan;  Wang, Mingwei;  Chen, Qiongrong;  Zheng, Qiaosong;  Li, Guangyu
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/05
Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2019, 卷号: 23, 期号: 10, 页码: 722-727
作者:  Yuan, Ye;  Xu, Huijuan;  Zhang, Shanshan;  Zhang, Xiang;  Zhang, Lin
收藏  |  浏览/下载：9/0  |  提交时间：2021/10/27
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
A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family 期刊论文
BMC NEUROLOGY, 2018, 卷号: 18
作者:  Miao, Jing;  Su, Fei-fei;  Liu, Xue-mei;  Wei, Xiao-jing;  Yuan, Yun
收藏  |  浏览/下载：14/0  |  提交时间：2019/12/05
Heterozygous deletion of LRP5 gene in mice alters profile of immune cells and modulates differentiation of osteoblasts 期刊论文
BIOSCIENCE TRENDS, 2018, 卷号: 12, 期号: 3
作者:  Li, Lisha;  Wang, Yan;  Zhang, Na;  Zhang, Yang;  Lin, Jing
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/05
Heterozygous deletion of chromosome 17p renders prostate cancer vulnerable to inhibition of RNA polymerase II 期刊论文
NATURE COMMUNICATIONS, 2018, 卷号: 9
作者:  Li, Yujing;  Liu, Yunhua;  Xu, Hanchen;  Jiang, Guanglong;  Van der Jeught, Kevin
收藏  |  浏览/下载：14/0  |  提交时间：2019/12/05
The Ubx Polycomb response element bypasses an unpaired Fab-8 insulator via cis transvection in Drosophila 期刊论文
PLOS ONE, 2018, 卷号: 13, 期号: 6, 页码: e0199353
作者:  Erlin Wang;  Yunshuang Ye;  Yue Zhang;  Vikrant Singh;  Sheryl Smith
收藏  |  浏览/下载：45/0  |  提交时间：2018/09/26

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