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312 积分 2024-07-18 加入
Dystonia: from phenotypes to genetics and therapeutic advances
3天前
已完结
Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches
3天前
已完结
Updated penetrance estimates for recurrent copy number variants – an improved definition and formula
7天前
已完结
How Variants of Uncertain Significance Impact Clinical Decisions: A Systematic Review
13天前
已完结
A matter of switch: how RAC1 variants drive distinct disorders
14天前
已关闭
严重程度不同的SHANK2相关神经发育障碍一家系4例基因型-表型关系研究
19天前
已完结
Nonimmune hydrops fetalis caused by G6PD deficiency hemolytic crisis and congenital dyserythropoietic anemia
19天前
已完结
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment
24天前
已完结
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