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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
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
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
Ankyrin  repeat  domain  1  cardiac  septal  defect  mutant  
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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