Lv42
630 积分 2023-06-06 加入
Substitutions of nucleotides at the 3' ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies
4小时前
已完结
Intronic VNTRs downregulate expression of HSF1 and confer genetic risk of essential tremor
11小时前
已关闭
Three different scenarios for epileptic spasms
4天前
已完结
Missing heritability of Wilson disease: a search for the uncharacterized mutations
14天前
已完结
A Systematic Review and Meta-Analysis of the R778L Mutation in ATP7B With Wilson Disease in China
19天前
已完结
Predicting expression-altering promoter mutations with deep learning
20天前
已完结
Glycogen storage diseases
21天前
已完结
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism
25天前
已完结
The management of adult and paediatric uveitis for rheumatologists
29天前
已完结
Incontinentia Pigmementi
1个月前
已完结
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