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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
An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21 期刊论文
2019, 卷号: 14, 期号: 4
作者:  Sun, Xiaohan;  Lu, Jianbo;  Ma, Xu
收藏  |  浏览/下载：8/0  |  提交时间：2020/01/03
Invasive prenatal diagnosis of alpha-thalassemia to control Hb Bart's hydrops fetalis syndrome: 15 years of experience 期刊论文
2018, 卷号: 298, 期号: 2, 页码: 307-311
作者:  Lai, Ketong;  Li, Shuquan;  Lin, Weixiong;  Yang, Dezhai;  Chen, Wenqiang
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03
succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses (vol 574, pg 41, 2015) 期刊论文
2016, 卷号: 580, 期号: 2, 页码: 184-184
作者:  Li, Xiyuan;  Ding, Yuan;  Liu, Yupeng;  Zhang, Yao;  Song, Jinqing
收藏  |  浏览/下载：6/0  |  提交时间：2020/01/04
X连锁遗传性脑积水的L1 CAM基因突变检测及产前诊断 期刊论文
2016, 卷号: 25, 期号: 4, 页码: 347-352
作者:  姚凤霞;  张为民;  高劲松;  陈蔚琳;  刘欣燕
收藏  |  浏览/下载：6/0  |  提交时间：2020/01/04
A multicenter study of fetal chromosomal abnormalities in Chinese women of advanced maternal age 期刊论文
2016, 卷号: 55, 期号: 3, 页码: 379-384
作者:  Zhu, Yuning;  Lu, Shiming;  Bian, Xuming;  Wang, He;  Zhu, Baosheng
收藏  |  浏览/下载：6/0  |  提交时间：2020/01/04
Sorting of chromosomes on FACSAria(TM) SORP for the preparation of painting probes 期刊论文
2016, 卷号: 89A, 期号: 9, 页码: 844-851
作者:  Jia, Yu-Yan;  Wu, Hou-Nan;  Fang, Liang;  Liu, Yun;  Cheng, Li
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/04
Corrigendum to succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses [Gene 574(2015) 41-47 期刊论文
2016, 卷号: 580, 期号: 2, 页码: 184
作者:  Li Xiyuan;  Ding Yuan;  Liu Yupeng;  Zhang Yao;  Song Jinqing
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/04
Quantitation of fetal DNA fraction in maternal plasma using circulating single molecule amplification and re-sequencing technology (cSMART) 期刊论文
2016, 卷号: 456, 页码: 151-156
作者:  Song, Yijun;  Zhou, Xiya;  Huang, Saiqiong;  Li, Xiaohong;  Qi, Qingwei
收藏  |  浏览/下载：34/0  |  提交时间：2020/01/04
Copy number variation sequencing-based prenatal diagnosis using cell-free fetal DNA in amniotic fluid 期刊论文
2016, 卷号: 36, 期号: 6, 页码: 576-583
作者:  Qi, Qingwei;  Lu, Sijia;  Zhou, Xiya;  Yao, Fengxia;  Hao, Na
收藏  |  浏览/下载：26/0  |  提交时间：2020/01/04

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