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64 积分 2023-06-12 加入
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
21天前
已完结
Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders
1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
1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
1个月前
已完结
GNAI1 missense mutations associated with a neurodevelopmental syndrome modify Gα i1 function
1个月前
已完结
De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum
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
1个月前
已完结
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
2个月前
已完结
PIGC-related encephalopathy: Lessons learned from 18 new probands
2个月前
已完结
Are SHROOM4 loss‐of‐function variants pathogenic?
2个月前
已完结
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