copynumbervariations相关论文
1 Introduction Copy number variations(CNVs),which represent another crucial genomic variation in biological mechanisms c......
BACKGROUND Recent studies have found that copy number variations (CNVs) are widespread in the human or animal genome and......
Background & Aims: Hepatocellular carcinoma (HCC), one of the most common malignant human cancers worldwide, is identifi......
Characteristic face:A key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiof
Velocardiofacial syndrome(VCFS)is a disease in human with multiple anomalies,an expansive phenotypic spectrum,and divers......
婴儿痉挛症(ISs)是一种年龄相关的癫痫性脑病，与认知障碍、孤独症谱系障碍及精神运动发育迟缓高度相关。目前已发现多种遗传方式，如......
Autism spectrum disorder(ASD) is gathering concerns in socially developed countries. ASD is a neuropsychiatric disorder ......
目的:探讨颅内间隙异常胎儿的基因组拷贝数变化。方法:对颅内间隙异常而常规染色体核型分析未见异常的胎儿采用微阵列比较基因组杂......
