Lv5
1020 积分 2023-10-12 加入
Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing
4小时前
已完结
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
4小时前
已完结
Optical Coherence Tomography Angiography of Familial Retinal Arteriolar Tortuosity
6小时前
求助中
Optical Coherence Tomography Angiography of Familial Retinal Arteriolar Tortuosity
6小时前
已关闭
Identification of Cepharanthine as a Potential Therapy of Acid Sphingomyelinase Deficiency by Reducing Cellular Sphingosylphosphorylcholine
20天前
已完结
Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience
1个月前
已完结
Oxysterols in Metabolic Syndrome: From Bystander Molecules to Bioactive Lipids
1个月前
已完结
Diagnostic value of plasma lysosphingolipids levels in a Niemann-Pick disease type C patient with transient neonatal cholestasis
1个月前
已关闭
Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism
1个月前
已完结
Elucidating the mutational impact in causing Niemann-Pick disease type C: an in silico approach
1个月前
已完结
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