伴有泌尿系统畸形的多器官出生缺陷的遗传基础及其致病机制的研究

81370715
2013
H0419.胎儿相关性疾病与胎源性疾病
蔡光伟
面上项目
教授
香港中文大学深圳研究院
70万元
诱导性多潜能干细胞;第二代测序;出生缺陷;多发畸形;基因组变异
2014-01-01到2017-12-31
  • 中英文摘要
  • 结题摘要
  • 结题报告
  • 项目成果
  • 项目参与人
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序号 标题 类型 作者
1 Prevalence of Microdeletions Syndromes in Prenatal Samples 会议论文 蔡光伟
2 双胎核型与基因芯片的不一致 会议论文 蔡光伟
3 Prenatal CMA findings in urinary system malformations fetuses with normal karyotype 会议论文 Wang H;Dong Z;Chen M;Xiong L;Choy KW
4 Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing. 期刊论文 Dong Zirui;Xie Weiwei;Chen Haixiao;Xu Jinjin;Wang Huilin;Li Yun;Wang Jun;Chen Fang;Choy Kwong Wai;Jiang Hui
5 Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study 期刊论文 Cao Ye;Li Zhihua;Rosenfeld Jill A.;Pursley Amber N.;Patel Ankita;Huang Jin;Wang Huilin;Chen Min;Sun Xiaofang;Leung Tak Yeung;Cheung Sau Wai;Choy Kwong Wai
6 Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach. 会议论文 Dong Z;Wang H;Jiang H;Choy KW
7 Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort 期刊论文 Chong Wilson Wai Sing;Lo Ivan Fai Man;Lam Stephen Tak Sum;Wang Chi Chiu;Luk Ho Ming;Leung Tak Yeung;Choy Kwong Wai
8 Identification of Balanced Chromosomal Rearrangements Previously Unknown Among Participants in the 1000 Genomes Project: Implications for Interpretation of Structural Variation in Genomes and the Future of Clinical Cytogenetics 期刊论文 Dong Z;Wang H;Chen H;Jiang H;Yuan J;Yang Z;Wang WJ;Xu F;Guo X;Cao Y;Zhu Z;Geng C;Cheung WC;Kwok YK;Yang H;Leung TY;Morton CC;Cheung SW;Choy KW
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