序号(S/N) | 时间/Date | 类型/Type | 题目/Topic | 讲者/Speaker | 单位/Institution | ||
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1 | 13:30-14:00 | 专题报告 |
遗传性疾病精准诊治 |
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2 | 14:00-14:30 | 专题报告 |
先天性上睑下垂致病基因与骨骼肌发育的关系及作用机制研究 |
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3 | 14:30-14:45 | 论文发言 |
Frameshift variants in the C-terminal of CTNNB1 cause familial exudative vitreoretinopathy by AXIN1-mediated ubiquitin-proteasome degradation condensation |
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4 | 14:45-15:00 | 论文发言 |
Recurrent gene flow between Neanderthals and modern humans over the past 200,000 years |
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5 | 15:00-15:20 | 企业专题会 |
全外显子组测序在遗传疾病诊断中的应用 |
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序号(S/N) | 时间/Date | 类型/Type | 题目/Topic | 讲者/Speaker | 单位/Institution | ||
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1 | 15:20-15:35 | 论文发言 |
Copynumber variation analysis of 25,000 fetuses in southern China: Aretrospective study |
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2 | 15:35-15:50 | 论文发言 |
非编码区结构变异介导三维基因组改变导致罕见型虹膜缺损 |
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3 | 15:50-16:05 | 论文发言 |
SMC3在心脏发育中的功能及分子机制研究 |
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4 | 16:05-16:20 | 论文发言 |
miR-6089 alleviates inflammation and cell apoptosis through modulating the TLR4 pathway in allergic rhinitis |
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5 | 16:20-16:35 | 论文发言 |
Identification of LRRC46 as a novel candidate gene for high myopia |
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6 | 16:35-16:50 | 论文发言 |
AAV介导的C1orf194基因治疗该基因缺陷导致的CMT小鼠模型研究 |
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7 | 16:50-17:05 | 论文发言 |
丝氨酸蛋白酶PRSS56非编码突变致先天性高度近视的机理 |
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8 | 17:05-17:20 | 论文发言 |
5个新发现的SOX10基因顺势调控元件杂合缺失导致Waardenburg综合征 |
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9 | 17:20-17:35 | 论文发言 |
A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder |
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10 | 17:35-17:50 | 论文发言 |
NAMPT蛋白39位半胱氨酸突变通过还原应激导致雄性小鼠不育 |
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