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38 积分 2025-04-17 加入
[Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations]
12天前
已完结
FBXL4基因变异所致新生儿线粒体DNA耗竭综合征13型1例
17天前
已完结
Molecular basis for nonphenylketonuria hyperphenylalaninemia
1个月前
已完结
Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene
1个月前
已完结
A validation of the new definition of drug‐resistant epilepsy by the International League Against Epilepsy
1个月前
已完结
CRISPR‐Based KCC2 Upregulation Attenuates Drug‐Resistant Seizure in Mouse Models of Epilepsy
1个月前
已完结
AAV-mediated GPR173 gene therapy attenuates long-term refractory epilepsy by enhancing synaptic GABAA receptor expression
1个月前
已完结
Individualized antisense oligonucleotides for SCN2A-related developmental epileptic encephalopathy
1个月前
已完结
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
1个月前
已完结
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