换一批Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.
第一作者：
Juan,Geng
第一单位：
Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China. qihuafu@hotmail.com.
作者：
医学主题词
青少年(Adolescent);儿童(Child);儿童, 学龄前(Child, Preschool);染色体畸变(Chromosome Aberrations);染色体图(Chromosome Mapping);比较基因组杂交(Comparative Genomic Hybridization);DNA拷贝数变异(DNA Copy Number Variations);女(雌)性(Female);基因频率(Gene Frequency);遗传关联研究(Genetic Association Studies);心脏缺损, 先天性(Heart Defects, Congenital);人类(Humans);婴儿(Infant);男(雄)性(Male);表型(Phenotype);数量性状基因座位(Quantitative Trait Loci)
DOI
10.1186/1471-2164-15-1127
PMID
25516202
发布时间
2022-03-30
- 浏览23
BMC genomics
1127页
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