Lv2
106 积分 2024-01-19 加入
Copy number variation in pediatric multiple sclerosis
2天前
已完结
PLA2G6 mutations cause motor dysfunction phenotypes of young-onset dystonia-parkinsonism type 14 and can be relieved by DHA treatment in animal models
24天前
已完结
Phenotype and genotype of AKT3-related disorders
25天前
已完结
Novel biallelic mutations in PADI6 in patients with early embryonic arrest
1个月前
已完结
Regional missense constraint improves variant deleteriousness prediction
2个月前
已关闭
Biallelic truncating TTN variants in M‐band encoding exons cause a fetal lethal titinopathy
2个月前
已完结
Cardiovascular risk factors and testing of relatives amongst patients with familial hyperlipidaemia one decade after a clinical trial
2个月前
已完结
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single‐gene testing and next‐generation sequencing in East Asia
3个月前
已完结
Mutations in the SLCO1B3 gene affecting the substrate specificity of the hepatocellular uptake transporter OATP1B3 (OATP8)
3个月前
已完结
Rotor's syndrome
3个月前
已完结
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