Lv4
490 积分 2023-11-02 加入
PCDH19-clustering epilepsy, pathophysiology and clinical significance
3个月前
已完结
The potential of CYP46A1 as a novel therapeutic target for neurological disorders: An updated review of mechanisms
4个月前
已完结
Consensus Guidelines for the Monitoring and Management of Metachromatic Leukodystrophy in the United States
4个月前
已关闭
High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases
4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
4个月前
已完结
Genome Sequencing for Diagnosing Rare Diseases
5个月前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
5个月前
已完结
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy
6个月前
已完结
Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia
7个月前
已完结
Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review
8个月前
已完结
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