Lv41
690 积分 2023-11-02 加入
Recent advances in the molecular genetics of epilepsy
5小时前
待确认
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants
1个月前
已完结
Elevated Astrocytic NFAT5 of the hippocampus increases epilepsy susceptibility in hypoxic‐ischemic mice
2个月前
已完结
PCDH19-clustering epilepsy, pathophysiology and clinical significance
9个月前
已完结
The potential of CYP46A1 as a novel therapeutic target for neurological disorders: An updated review of mechanisms
9个月前
已完结
Consensus Guidelines for the Monitoring and Management of Metachromatic Leukodystrophy in the United States
9个月前
已关闭
High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases
9个月前
已完结
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, leber congenital amaurosis, and cone dysfunction syndromes
10个月前
已完结
Genome Sequencing for Diagnosing Rare Diseases
10个月前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
10个月前
已完结
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