Lv1
80 积分 2023-06-12 加入
The phenotypic spectrum of YWHAG ‐related epilepsy: From mild febrile seizures to severe developmental delay and epileptic encephalopathy
1个月前
已完结
Soot nanoparticles promote ferroptosis in dopaminergic neurons via alteration of m6A RNA methylation in Parkinson’s disease
1个月前
已完结
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature
1个月前
已完结
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
2个月前
已完结
Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders
3个月前
已完结
Correlations Between Dietary Magnesium Consumption and Magnesium Depletion Score in Relation to Parkinson’s Disease: A Population-Based Study
3个月前
已完结
Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.( Ala106Thr ) gain‐of‐function variant: Structural and phenotypic insights
3个月前
已完结
GNAI1 missense mutations associated with a neurodevelopmental syndrome modify Gα i1 function
3个月前
已完结
De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum
3个月前
已完结
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
3个月前
已完结
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