Lv12
40 积分 2023-08-07 加入
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
1天前
求助中
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient
4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
9个月前
已完结
Global identification of direct SWI/SNF targets reveals compensation by EP400
11个月前
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
Increased exonic de novo mutation rate in individuals with schizophrenia
1年前
已完结
Binding of Neuroligins to PSD-95
1年前
已完结
Increased exonic de novo mutation rate in individuals with schizophrenia
1年前
已完结
Binding of Neuroligins to PSD-95
1年前
已完结
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