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294 积分 2023-09-12 加入
X连锁视网膜劈裂症临床诊疗的中国专家共识(2025)
8天前
已完结
X连锁视网膜劈裂症临床诊疗的中国专家共识(2025)
8天前
已关闭
广州市原发性肉碱缺乏症新生儿筛查评估及SLC22A5基因变异谱特征
8天前
已完结
Mutational analysis of COL4A5 gene in Korean Alport syndrome
20天前
已完结
[Study of a family affected with focal segmental glomerulosclerosis due to mutation of COL4A5 gene]
20天前
已完结
The noncausal association between a loss-of-function CLCN2 variant and childhood absence epilepsy
23天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
27天前
已关闭
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
27天前
已完结
Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study
27天前
已完结
RYR3 Variants Are Potentially Associated With Idiopathic (Non-Lesional) Partial Epilepsy/Susceptibility of Seizures, Toward Understanding the Gene-Disease Association by Genetic Dependent Nature
28天前
已完结
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