Lv2
120 积分 2023-12-27 加入
A frameshifting mutation in CHRNE unmasks skipping of the preceding exon
1天前
求助中
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita
1个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
2个月前
已完结
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness
5个月前
已完结
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease
5个月前
已完结
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
5个月前
已关闭
ARID1A mutation/ARID1A loss is associated with a high immunogenic profile in clear cell ovarian cancer
10个月前
已完结
ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed
10个月前
已完结
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