| 13:30-13:55 | 专题报告 |
选择性多聚腺苷酸化与卵巢衰老 |
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| 13:55-14:20 | 专题报告 |
基于全外显子测序技术探究VKH综合征遗传易感性 |
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| 14:20-14:30 | 论文发言 |
Cone subtypes composition shift combined with changes on phototransduction due to ARR3 variants-induced cone mosaicism |
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| 14:30-14:40 | 论文发言 |
Roles of MID1/MID2 in Early Craniofacial Development and the Molecular Mechanisms Underlying Craniofacial Malformations |
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| 14:40-14:50 | 论文发言 |
A medium throughput approach for single cell copy number variation sequencing towards efficient application in clinics |
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| 14:50-15:00 | 论文发言 |
巨噬细胞来源的ONOO-硝化AQP9引起母胎界面乳酸代谢紊乱导致复发性流产的机制研究 |
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| 15:00-15:10 | 论文发言 |
Genetic Dissection of Clinical Heterogeneity in Hemoglobin H Patients by Targeted Long-Read Sequencing |
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| 15:10-15:20 | 论文发言 |
WDR73 Deficiency Causes Progressive Cerebellar Atrophy and Purkinje Cell Loss in Galloway-Mowat Syndrome Type 1 (GAMOS1): Insights from Organoid and Mouse Models |
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| 15:20-15:30 | 论文发言 |
从Mini-Gene到Mini-NMD揭示一个中国COG5-CDG家系新发COG5突变的致病机制 |
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