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970 积分 2024-12-21 加入
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies
1个月前
已关闭
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
1个月前
已关闭
Generation and long-term culture of human cerebellar organoids from pluripotent stem cells
5个月前
已完结
The endocytic adaptor AP-2 maintains Purkinje cell function by balancing cerebellar parallel and climbing fiber synapses
5个月前
已关闭
Cbln1 Is a Ligand for an Orphan Glutamate Receptor δ2, a Bidirectional Synapse Organizer
5个月前
已完结
Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease
6个月前
已完结
Brachytelephalangic Chondrodysplasia Punctata Phenotype in Prenatally Diagnosed VKCFD1: A Novel GGCX Variant
6个月前
已关闭
[Clinical and genetic analysis of a Chinese pedigree affected with Familial focal epilepsy with variable foci due to variant of NPRL3 gene]
8个月前
已完结
A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature
8个月前
已完结
Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes
10个月前
已完结
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