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80 积分 2023-01-15 加入
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases
7天前
已完结
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
8天前
已完结
Spinal muscular atrophy
12天前
已完结
Modeling late-onset Alzheimer’s disease neuropathology via direct neuronal reprogramming
21天前
已完结
CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy
22天前
已完结
Antisense oligonucleotides enhance SLC20A2 expression and suppress brain calcification in a humanized mouse model
22天前
已完结
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
1个月前
已完结
The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy
1个月前
已完结
Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation
2个月前
已完结
Reducing local tension to repair nasal septal deviation and spur
2个月前
已完结
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