Lv1
50 积分 2022-10-07 加入
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy
18小时前
待确认
Case Report: Targeted treatment by fluoxetine/norfluoxetine of a KCNC2 variant causing developmental and epileptic encephalopathy
6个月前
已完结
Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents
1年前
已完结
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
1年前
已完结
Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome
1年前
已完结
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
1年前
已完结
Possible mechanisms for atrophy of the human hippocampus
1年前
已完结
Functional analysis of two abnormal antithrombin proteins with different intracellular kinetics
1年前
已完结
AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial
1年前
已完结
Skraban-Deardorff Syndrome in an Indian Child - A Very Rare Pathogenic Base Pair Deletion in WDR26 Gene
1年前
已完结
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