Lv11
66 积分 2023-06-12 加入
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
31分钟前
已完结
PIGC-related encephalopathy: Lessons learned from 18 new probands
1小时前
已完结
Are SHROOM4 loss‐of‐function variants pathogenic?
20天前
已完结
KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models
27天前
已关闭
KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models
29天前
已关闭
De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies
1个月前
已完结
Compound heterozygous mutations in the SSPOP gene lead to epilepsy and developmental disorders
1个月前
已完结
Genetics of infantile epileptic spasms syndrome in China
2个月前
已关闭
Family history increases the risk of late seizures after stroke
2个月前
已完结
Microglia replacement halts the progression of microgliopathy in mice and humans
3个月前
已完结
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