Lv3
206 积分 2024-08-09 加入
PEHO syndrome: the endpoint of different genetic epilepsies
1个月前
已完结
Phenotypic continuum in IGHMBP2-related disorders: a portfolio of cases from typical to Guillain-Barré syndrome-like presentation
1个月前
已完结
Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations
1个月前
已完结
ARHGAP4 variants are associated with X-linked early-onset temporal lobe epilepsy
1个月前
已完结
An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma
1个月前
已完结
Personalized medicine in genetic epilepsies - possibilities, challenges, and new frontiers
2个月前
已完结
NICE guideline review: Epilepsies in children, young people and adults NG217
2个月前
已完结
Two novel heterozygous HPDL variants in a Chinese family with a neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
2个月前
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
3个月前
已完结
Overlapping MERS and mild AESD caused by HHV-6 infection
3个月前
已完结
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