Lv11
62 积分 2023-05-22 加入
The skeletal muscle chloride channel in dominant and recessive human myotonia
4小时前
待确认
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in the Chinese Population and Its Implications for Clinical Practice
7天前
已完结
MEGF10基因缺陷致早发型肌病1家系并文献复习
12天前
已完结
Pathogenicity and functional analysis of the novel NDUFS1 variant in Leigh syndrome ocular disease
20天前
已关闭
Inefficient splicing curbs noncoding RNA transcription
21天前
已完结
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy
21天前
已完结
Evaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability
26天前
已完结
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients
28天前
已完结
黏多糖贮积症ⅣA型患儿 GALNS基因突变研究
1个月前
已完结
Genotype variability in early-onset Hereditary Spastic Paraplegia: a single-center study
1个月前
已完结
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