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2025-08-31 星期日
10:45-11:50 3F 首见厅
论文汇报
主持人

傅启华 

方合志 

李卓 

点评专家

顾学范 

张知新 

陈素华 

陈萍 

Mate-pair sequencing reveals structural variations in recurrent spontaneous abortion couples with a history of abnormal copy number variants in aborted embryos

卢婉  10:45-10:50

[论文发言]

碱基编辑纠正异常剪切缺陷治疗β654地贫小鼠

鲁丹  10:50-10:55

[论文发言]

Long-Read Sequencing for NF1 Gene Analysis: Enhancing Diagnostic Accuracy for Neurofibromatosis Type 1

郑宇  10:55-11:00

[论文发言]

Genetic burden and multidimensional predictors in prenatal diagnosis of fetal congenital diaphragmatic hernia

黄锐斌  11:00-11:05

[论文发言]

Druggable targets for hypertrophic cardiomyopathy: transcriptomics based Mendelian randomization study

张嵩林  11:05-11:10

[论文发言]

A novel 17q22 microdeletion in a fetus: Implications for genotype-phenotype correlations

吴幽兰  11:10-11:15

[论文发言]

The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China

王琼  11:15-11:20

[论文发言]

DSCAML1 基因内含子突变与智力障碍、神经发育异常和抽动样行为相关

刘嘉兴  11:20-11:25

[论文发言]

Expanded carrier screening in a southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants ac for nearly half of the at-risk couple rate

刘莎  11:25-11:30

[论文发言]

遗传异质性通过钙信号通路调控单纯疱疹病毒易感性的机制研究

边成  11:30-11:35

[论文发言]

XIRP2 upregulation links to intraventricular conduction block via O-GlcNAclyation-ubiquitination competition in diabetic hearts

王文杰  11:35-11:40

[论文发言]

利用单细胞转录组研究视黄酸信号在大动脉转位发生、发展中的作用机制

李媛明  11:40-11:45

[论文发言]

总结

  11:45-11:50

[总结]