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浏览/检索结果: 共5条，第1-5条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes 期刊论文 Genetics in Medicine, 2019 作者:  Desheng Liang;  David S. Cram;  Hu Tan;  Siyuan Linpeng;  Yingdi Liu 收藏  |  浏览/下载：105/0  |  提交时间：2019/12/13 22q11.2 microdeletions  copy-number variation (CNV)  microdeletion/microduplication syndromes (MMS)  noninvasive prenatal screening  positive predictive value (PPV)   Performance evaluation of nipt in detection of chromosomal copy number variants using low-coverage whole-genome sequencing of plasma dna 期刊论文 Plos one, 2016, 卷号: 11, 期号: 7, 页码: 11 作者:  Liu, Hongtai;  Gao, Ya;  Hu, Zhiyang;  Lin, Linhua;  Yin, Xuyang 收藏  |  浏览/下载：38/0  |  提交时间：2019/05/09 Applicability of firs trimester combined screening for fetal trisomy 21 in a resource-limited setting in mainland China 期刊论文 BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2016, 卷号: 123 作者:  Li, B.;  Sahota, D. S.;  Lao, T. T.;  Xu, J.;  Hu, S. Q. 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/04 China  cost-effectiveness  Down syndrome  first-trimester screening  noninvasive prenatal testing  nuchal translucency   Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment 期刊论文 中国科学. 生命科学, 2015, 卷号: 58, 期号: 9, 页码: 829-838 作者:  Xiong WenPing;  Wang DaYong;  Gao Yuan;  Gao Ya;  Wang HongYang 收藏  |  浏览/下载：13/0  |  提交时间：2019/12/17 preimplantation genetic diagnosis (PGD)  noninvasive prenatal testing  (NIPT)  noninvasive prenatal diagnosis (NIPD)  GJB2 (encoding the gap  junction protein connexin 26)  hearing impairment   Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment 期刊论文 Science China(Life Sciences), 2015, 期号: 09, 页码: 829-842 作者:  XIONG WenPing;  WANG DaYong;  GAO Yuan;  GAO Ya;  WANG HongYang 收藏  |  浏览/下载：9/0  |  提交时间：2019/12/17 preimplantation genetic diagnosis(PGD)  noninvasive prenatal testing(NIPT)  noninvasive prenatal diagnosis(NIPD)  GJB2(encoding the