Lv1
10 积分 2021-05-22 加入
Developmental and epilepsy spectrum of Poirier–Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature
2个月前
已完结
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
2个月前
已完结
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies
2个月前
已完结
Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders
3个月前
已完结
A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype–phenotype correlation
3个月前
已完结
[Iatrogenic rhabdomyolysis and hypothyroidism revealing Sheehan's syndrome]
5个月前
已关闭
Incidence, prevalence, and global burden of autism spectrum disorder from 1990 to 2019 across 204 countries
5个月前
已完结
Myoglobinopathy affecting facial and oropharyngeal muscles
6个月前
已完结
Potassium channels and epilepsy
7个月前
已完结
Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing
7个月前
已完结
皖公网安备34019202002308
