Lv1
38 积分 2022-08-24 加入
A nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature review
19小时前
已完结
Functional evaluation of epilepsy‐associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties
20天前
已完结
Overlapping Xp21.2 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity
1个月前
已关闭
Autonomous biomedical research with an artificial intelligence agent
2个月前
已完结
TRPV3 Mutation‐Associated Olmsted Syndrome in a Hispanic Patient: Response to Erlotinib and Review of Literature
5个月前
已完结
Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
5个月前
已完结
A NewTRPV3Missense Mutation in a Patient With Olmsted Syndrome and Erythromelalgia
5个月前
已完结
Olmsted syndrome in an Iranian boy with a newde novomutation inTRPV3
5个月前
已完结
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