- 不限
- 2026年05月30日 [星期六]
- 2026年05月31日 [星期日]
- 不限
- 希尔顿酒店二楼招华厅
- 希尔顿酒店二楼招华厅A
- 希尔顿酒店二楼招华厅B
- 希尔顿酒店二楼招华厅C
- 希尔顿酒店二楼积余厅
- 不限
- 开幕式
- 全体大会
- 临床遗传学分会场
- 基础遗传学分会场
- 青年分会场
- 闭幕式
2026年05月30日 [星期六]
希尔顿酒店二楼招华厅A
| 13:30-13:55 | 专题报告 |
基于分子诊断的聋病精准诊疗进展 |
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| 13:55-14:20 | 专题报告 |
NARFL敲除致铁死亡在血管内皮功能障碍中的作用和机制 |
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| 14:20-14:30 | 论文发言 |
Lipoprotein(a) Concentration, Kringle IV-2 Repeat Copy Number, and Myocardial Infarction Risk in Chinese Populations: Insights from the INTERHEART China Study |
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| 14:30-14:40 | 论文发言 |
美多芭治疗TH基因变异所致酪氨酸羟化酶缺乏症的8年临床经验——单中心回顾性队列研究 |
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| 14:40-14:50 | 论文发言 |
Genotype–phenotype correlation of CHD8 variants in a Chinese cohort: the largest case series to date |
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| 14:50-15:00 | 论文发言 |
Advances and Challenges in the Application of Long-Read Sequencing for the Molecular Diagnosis of Mitochondrial Diseases |
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| 15:00-15:20 | 专题报告（专题会） |
三代HiFi人类全基因组测序的临床应用 |
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| 15:20-15:40 | 专题报告（专题会） |
超越“蚕豆病”：G6PD基因检测在多学科诊疗中的隐匿角色与全程管理价值 |
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| 15:40-16:00 | 专题报告（专题会） |
综合性携带者筛查在辅助生殖人群的应用 |
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| 16:00-16:10 |
休息 |
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| 16:10-16:20 | 论文发言 |
Osteogenesis Imperfecta Type V: Clinical Characteristics and Long-term Efficacy Analysis of Bisphosphonates: A Retrospective Study of 143 Chinese Patients with 8.2-Year Follow-up |
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| 16:20-16:30 | 论文发言 |
A novel splice variant in the COL1A1 gene leads to exon 46 skipping and osteogenesis imperfecta |
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| 16:30-16:40 | 论文发言 |
短暂性产前巴特综合征5型2例胎儿临床表型和遗传病因分析 |
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| 16:40-16:50 | 论文发言 |
Chromosomal Structural Abnormalities and Tissue-Specific Mosaicism: Insights of False-Negative Noninvasive Prenatal Testing |
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| 16:50-17:00 | 论文发言 |
产前无创筛查的临床应用以及特殊病例分享 |
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| 17:00-17:10 | 论文发言 |
Establishment of Biological Reference Intervals for Coagulation Indicators in Pregnancy Using a Non-parametric Approach |
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| 17:10-17:20 | 论文发言 |
Genetic diagnosis in fetuses with biliary tract system abnormalities: a meta-analysis and systematic review |
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| 17:20-17:30 | 论文发言 |
全外显子组测序技术在胎儿泌尿系统异常中的应用 |
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| 17:30-17:40 | 论文发言 |
Prenatal Whole-Exome Sequencing in Isolated Mild-to-Moderate Ventriculomegaly: Assessing Clinical Utility |
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| 17:40-17:50 | 论文发言 |
The association between early pregnancy infection with SARS-CoV-2 and fetal birth defects: a prospective study |
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| 17:50-18:00 | 论文发言 |
携带MYL2 R58Q突变的肥厚型梗阻性心肌病临床特征及猝死风险研究 |
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