2021-12-12
Sun
15:35-17:35
分会场二临床遗传学分会场
临床遗传学分会场（四）
15:35-15:50
基于游离DNA和母亲白细胞DNA的无创产前诊断在单基因病结节性硬化症中的临床应用
15:50-16:05
POLR3A基因复合杂合突变导致HDL7罕见病例一例报道
16:05-16:20
云南省德宏州和西双版纳州傣族人群G6PD缺乏症流行病学调查研究
16:20-16:35
Clinical and Genetic Features of NPHS1 Variant-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study
16:35-16:50
神经遗传病样本库的建设及特点
16:50-17:05
Evaluating the relationship between Clinical G6PD enzymatic and its mutation types
17:05-17:20
基于三代测序探索Turner综合征患者甲基化谱特点
17:20-17:35
The Mitochondrial DNA copy number acts as a biomarker in the pathological state