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| Clinical application of chromosomal microarray analysis for the diagnosis of Williams–Beuren syndrome in Chinese Han patients 期刊论文 Molecular Genetics & Genomic Medicine, 2019, 卷号: Vol.7 No.2 作者: Yu Xia; Shufang Huang; Yueheng Wu; Yongchao Yang; Shaoxian Chen 收藏  |  浏览/下载:24/0  |  提交时间:2019/12/13
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| Novel loss‑of‑function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report 期刊论文 Oncology Letters, 2019, 卷号: Vol.17 No.3, 页码: 3350-3354 作者: Yanzhi Cui; Yanyan Wang; Ningzhi Zhang; Jun He; Hui Huang 收藏  |  浏览/下载:23/0  |  提交时间:2019/12/17 |
| 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 |
| Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype 期刊论文 JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2019, 卷号: Vol.33 No.1 作者: Song, Tingting; Wan, Shanning; Li, Yu; Xu, Ying; Dang, Yinghui 收藏  |  浏览/下载:40/0  |  提交时间:2019/12/17
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| Ankyrin repeat domain 1: a novel gene for cardiac septal defects. 期刊论文 The journal of gene medicine, 2019, 页码: e3070 作者: Yongchao Yang; Yu Xia; Yueheng Wu; Shufang Huang; Yun Teng 收藏  |  浏览/下载:8/0  |  提交时间:2019/12/13
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| Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype 期刊论文 Journal of Clinical Laboratory Analysis, 2019, 卷号: Vol.33 No.1 作者: Tingting Song; Shanning Wan; Yu Li; Ying Xu; Yinghui Dang 收藏  |  浏览/下载:25/0  |  提交时间:2019/12/13
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