Lv21
164 积分 2024-08-09 加入
NICE guideline review: Epilepsies in children, young people and adults NG217
17天前
已完结
Two novel heterozygous HPDL variants in a Chinese family with a neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
18天前
已完结
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy
27天前
已完结
Overlapping MERS and mild AESD caused by HHV-6 infection
30天前
已完结
Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies
2个月前
已关闭
The clinical and genetic spectrum in infants with (an) unprovoked cluster(s) of focal seizures
2个月前
已完结
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
3个月前
已完结
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
3个月前
已完结
Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia
4个月前
已完结
Intergenerational effects of the microbiota on neurodevelopment: mechanisms and therapeutic perspectives
6个月前
已完结