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一类特殊的罕见病:关于胃肠新生物的思考
讲者:周澄蓓 -
UPWARDS项目简介及基因检测申请实操
讲者:刘鹏 -
遗传性低镁血症诊治进展
讲者:牟利军 -
核糖体病,从舒戴综合征到白血病
讲者:竺晓凡 -
基于单细胞测序的戈谢病多维药物重定位研究
讲者:席义博 -
中国cblC和mut亚型甲基丙二酸血症患者预后分析
讲者:邓雨欣 -
基于机器学习的全身骨闪烁显像 SAPHO 综合征和继发性骨肿瘤的鉴别诊断
讲者:蒋弘阳 -
基于长沙市出生缺陷监测医院11年肺隔离症监测数据的研究分析
讲者:王卫东 -
中国法布雷病筛查诊断治疗现状及展望
讲者:田庄 -
The Mechanisms of the VHL/TPP1/TERT Axis in Reversing HIF2α Inhibitor Resistance in VHL Syndrome-Associated Renal Cell Carcinoma via Telomere Regulation and Its Potential for Combined Targeted Therapy
讲者:宋铮 -
Genomic, transcriptomic, and proteomic characterization of missense variants associated with primary familial brain calcification
讲者:杨德壕 -
AAV-mediated Stambp gene replacement therapy reverses neurological defects in a mouse model of microcephaly-capillary malformation syndrome
讲者:胡梅新