Lv1
20 积分 2023-08-07 加入
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
3小时前
求助中
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
3小时前
已完结
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
17天前
已完结
[X-linked mental retardation combined with autism caused by a novel hemizygous mutation of GRIA3 gene]
20天前
已关闭
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
22天前
已关闭
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient
5个月前
已完结
A non-coding variant in 5’ untranslated region drove up-regulation of pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans
10个月前
已完结
Global identification of direct SWI/SNF targets reveals compensation by EP400
1年前
已完结
Antenatal presentation and supratentorial brain abnormalities in a child with Poretti-Boltshauser syndrome
1年前
已完结
Variability of retinopathy consequent upon novel mutations in LAMA1
1年前
已完结
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