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26 积分 2021-06-27 加入
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia
23天前
已完结
Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome
1个月前
已完结
DEPDC5 as a potential therapeutic target for epilepsy
1个月前
已完结
DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature
1个月前
已完结
Epilepsy With Eyelid Myoclonia (Jeavons Syndrome)
2个月前
已完结
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia
2个月前
已完结
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
2个月前
已完结
Genotypic and phenotypic spectra of NBEA-related neurodevelopmental disorder with epilepsy: a case series and literature review
2个月前
已完结
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase
3个月前
已完结
The Uppsala APP deletion causes early onset autosomal dominant Alzheimer’s disease by altering APP processing and increasing amyloid β fibril formation
3个月前
已完结
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