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Investigation into the Importance of genes encoding ciliary proteins in congenital heart disease using whole exome sequencing

机译：利用全外显子组测序研究先天性心脏病中睫状蛋白编码基因的重要性

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期刊名称 Cilia
作者
V Hartill; C Logan; DA Parry; K Szymanska; K Ashcroft; K English; K Prescott; A Dobbie; S Barwick; C Bennett; J Goodship; E Sheridan; C Johnson;
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年(卷),期 2015(4),Suppl 1
年度 2015
页码 P9
总页数 1
原文格式 PDF
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1. Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencing [J] . Liang Shuzhang, Shi Xin, Yu Chunxiao, Biochimica et biophysica acta. Molecular basis of disease: BBA . 2020,第12期

机译：全面测序鉴定异调子综合征患者的新型候选基因
2. Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease [J] . Ehsan Razmara, Masoud Garshasbi BMC Cardiovascular Disorders . 2018,第1期

机译：全基因组测序鉴定MYH6基因的R1279X与先天性心脏病有关
3. A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect*# [J] . Ji-jia Liu1, Liang-liang Fan2, Jin-lan Chen1, Journal of Zhejiang University. Science, B . 2014,第9期

机译：通过全末端测序与先天性心脏病相关基因过滤器结合的全外膜测序鉴定的一种新型变体与家族间隔缺损*＃
4. Understanding the Role of Ciliary Genes in Congenital Heart Disease Pathogenesis [C] . Kylia Wiliams International Molecular Medicine Tri-Conference. . 2019

机译：了解睫状基因在先天性心脏病发病机制中的作用
5. Investigating the Genetic Architecture of Congenital Heart Disease [D] . Manheimer, Kathryn. 2018

机译：研究先天性心脏病的遗传结构
6. Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract [O] . Vanita Berry, Alex Ionides, Nikolas Pontikos, 2020

机译：整个外显子组测序揭示导致先天性白内障的晶状体特定间隙连接蛋白编码基因中的新型和复发性疾病。
7. Investigation into the Importance of genes encoding ciliary proteins in congenital heart disease using whole exome sequencing [O] . 2015

机译：利用全外显子组测序研究先天性心脏病中睫状蛋白编码基因的重要性

Investigation into the Importance of genes encoding ciliary proteins in congenital heart disease using whole exome sequencing

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