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CORC

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A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China 期刊论文
2019, 卷号: 17, 页码: 26
作者:  Li Wenhui;  Li Lei;  Wu Ming
收藏  |  浏览/下载：11/0  |  提交时间：2020/01/03
Genetic study of a Chinese pedigree affected with pachyonychia congenita 期刊论文
2019, 卷号: 36, 期号: 10, 页码: 985-988
作者:  Zhao Feiyue;  Xing Biying;  Xiao Jifang;  Zhao Xiuli
收藏  |  浏览/下载：8/0  |  提交时间：2020/01/03
First Case Report of Maturity-Onset Diabetes of the Young Type 4 Pedigree in a Chinese Family 期刊论文
2019, 卷号: 10, 页码: 406
作者:  Deng, Mingqun;  Xiao, Xinhua;  Zhou, Liyuan;  Wang, Tong
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03
Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia 期刊论文
2019, 卷号: 18, 期号: 3, 页码: 912-915
作者:  Xue, Ke;  Zheng, Yajie;  Shen, Changbing;  Cui, Yong
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome 期刊论文
2019, 卷号: 18, 期号: 2, 页码: 261-265
作者:  Baig, Shahid Mahmood;  Fatima, Ambrin;  Tariq, Muhammad;  Khan, Tahir Naeem;  Ali, Zafar
收藏  |  浏览/下载：31/0  |  提交时间：2020/01/03
Sarcomere variants in arrhythmogenic cardiomyopathy: Pathogenic factor or bystander? 期刊论文
2019, 卷号: 687, 页码: 82-89
作者:  Chen, Kai;  Rao, Man;  Guo, Guangran;  Chen, Xiao;  Chen, Liang
收藏  |  浏览/下载：6/0  |  提交时间：2020/01/03
A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma 期刊论文
2019, 卷号: 18, 期号: 1, 页码: 371-376
作者:  Xue, Ke;  Zheng, Yajie;  Cui, Yong
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/03
Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis 期刊论文
2019, 卷号: 111, 期号: 6, 页码: 1226-+
作者:  Tang, Ruiyi;  Liu, Xiao;  Pan, Lingya;  Chen, Rong
收藏  |  浏览/下载：5/0  |  提交时间：2020/01/03
Novel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto's thyroiditis 期刊论文
2018, 卷号: 18, 期号: 1, 页码: 76
作者:  Gong, Licheng;  Liu, Beihong;  Wang, Jing;  Pan, Hong;  Qi, Anhui
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/03
Novel mutation in SP2 in a Chinese pedigree with Neural tube defects 期刊论文
2018, 卷号: 24, 期号: 10, 页码: 978-980
作者:  Liu, Bei-Hong;  Wang, Jing;  Li, Cong-Min;  Qi, Lin;  Song, Yan-Hong
收藏  |  浏览/下载：1/0  |  提交时间：2020/01/03

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