exome相关论文
Identification of COL3A1 variants associated with sporadic thoracic aortic dissection: a case-contro
Thoracic aortic dissection(TAD)without familial clustering or syndromic features is known as sporadic TAD(STAD).So far,t......
目的对一个三代四人发病的DDH家系进行研究，以期发现与DDH发病相关的致病基因或易感基因。方法对一个三代四人发病的DDH家系中的3个......
The emergence of next-generation sequencing technologies has led to dramatic advances in cancer genome studies.The incre......
Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole e
BACKGROUND Most cases of Apert syndrome(AS)are found after birth.Cases of AS diagnosed by ultrasound combined with magne......
Approaches to understanding the genetic contribution to inflammatory bowel disease(IBD)have continuously evolved from fa......
Approaches to understanding the genetic contribution to inflammatory bowel disease(IBD)have continuously evolved from fa......
Efficiency of olaparib in colorectal cancer patients with an alteration of the homologous repair pro
Precision medicine is defined by the administration of drugs based on the tumor’s particular genetic characteristics. I......
Pancreatic acinar cell carcinoma(PACC)is a rare cancer.When the tumor is metastatic,few therapeutic options are availabl......
The arrival of both high-throughput and bench-top next-generation sequencing technologies and sequence enrichment method......
Summary:Non-Herlitz junctional epidermolysis bullosa(JEB-nH),an autosomal recessive bullous genodermatosis,is characteri......
Purpose The present study aimed to evaluate the genetic diagnostic yield and accuracy of exome sequencing in Chinese pat......
