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Editorial: Familial Cancer in China: From Detection to Screening and Management 期刊论文
FRONTIERS IN ONCOLOGY, 2022, 卷号: 12
作者:  Chen, Tianhui;  Yuan, Ying
收藏  |  浏览/下载：0/0  |  提交时间：2022/12/23
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency 期刊论文
BIOMED RESEARCH INTERNATIONAL, 2019, 页码: 7
作者:  Zhao, Mei;  Hou, Lingling;  Teng, Huajing;  Li, Jinchen;  Wang, Jiesi
收藏  |  浏览/下载：59/0  |  提交时间：2019/06/12
Non-Robertsonian translocations involving chromosomes 13, 14, or 15 in male infertility 28 cases and a review of the literature 期刊论文
MEDICINE, 2019, 卷号: 98, 期号: 9
作者:  Yu, Yang;  Wang, Ruixue;  Zhang, Hongguo;  Liu, Ruizhi;  Hu, Xiaonan
收藏  |  浏览/下载：59/0  |  提交时间：2019/12/05
Cytogenetic and molecular characterization of an oligoasthenozoospermia male carrier of an unbalanced Y;22 translocation A case report 期刊论文
MEDICINE, 2019, 卷号: 98, 期号: 15
作者:  Jia, Chunshu;  Li, Linlin;  Chen, Shuang;  Li, Dejun;  Wang, Xuan
收藏  |  浏览/下载：14/0  |  提交时间：2019/12/05
Mutations of ARX and non-syndromic intellectual disability in Chinese population. 期刊论文
Genes & genomics, 2019, 卷号: 41, 页码: 125-131
作者:  Wu Yufei;  Zhang Huan;  Liu Xiaofen;  Shi Zhangyan;  Li Hongling
收藏  |  浏览/下载：23/0  |  提交时间：2019/11/19
Effects of a carrier's sex and age on the segregation patterns of the trivalent of Robertsonian translocations 期刊论文
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2019, 卷号: 36, 期号: 9, 页码: 1963-1969
作者:  Zhang, Lei;  Jiang, Wenjie;  Zhu, Yueting;  Chen, Hong;  Yan, Junhao
收藏  |  浏览/下载：59/0  |  提交时间：2019/12/11
Clinical diagnosis and genetic counseling of atypical ataxia‑telangiectasia in a Chinese family. 期刊论文
Molecular medicine reports, 2019
作者:  Jiangxia Cao;  Ruiqin Shen;  Wenqian Zhang;  Bing Mao;  Qirong Shi
收藏  |  浏览/下载：18/0  |  提交时间：2019/12/17
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
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：30/0  |  提交时间：2020/01/03
Translocation breakpoints of chromosome 3 in male carriers: a report of twelve cases and a review of the literature 期刊论文
TURKISH JOURNAL OF MEDICAL SCIENCES, 2018, 卷号: 48, 期号: 1
作者:  Zhang, Hongguo;  Wang, Ruixue;  Li, Linlin;  Zhu, Haibo;  Zhang, Hao
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/05

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