Lv5
1340 积分 2023-06-06 加入
Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy
10天前
已完结
Genetic and clinical profile of 15 Chinese families with GDAP1‐related Charcot–Marie–Tooth disease and identification of H256R as a frequent mutation
25天前
已完结
Beyond dystrophin: cell therapy for Duchenne muscular dystrophy
1个月前
已完结
Splicing modulation of ATXN2 as a therapeutic strategy to regulate Ataxin-2 protein levels in ALS
1个月前
已完结
Beyond dystrophin: cell therapy for Duchenne muscular dystrophy
1个月前
已完结
Toward the clinical application of long-read sequencing in repeat-expansion disorders
1个月前
已完结
Generalized overgrowth in CDC42BPB-related Chilton-Okur-Chung neurodevelopmental syndrome: expanding the phenotypic spectrum
1个月前
已完结
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity
2个月前
已完结
The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies
2个月前
已完结
AAVC: An automated framework for high-accuracy ACMG-based variant classification
2个月前
已完结
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