Lv31
210 积分 2025-04-19 加入
Lack of effectiveness and seizure worsening with cenobamate in pediatric patients with Dravet syndrome
4天前
已完结
Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project*
5天前
已完结
A Novel KCNQ2 Gain‐of‐Function Variant I134N Causes Severe Developmental and Epileptic Encephalopathy
6天前
已完结
NovelADAMTSL4gene mutations in Chinese patients with isolated ectopia lentis
6天前
已关闭
Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases
9天前
已关闭
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
11天前
已完结
Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines
12天前
已完结
‘Pseudo‐ataxic’ negative myoclonic status in developmental and epileptic encephalopathy with spike‐wave activation in sleep: Utility of ACTH therapy beyond west syndrome
13天前
已完结
Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan
19天前
已完结
The genetic and phenotypic spectrum of GABRB1 -related disorders
21天前
已完结
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