Lv21
110 积分 2024-01-19 加入
Novel biallelic mutations in PADI6 in patients with early embryonic arrest
1小时前
待确认
Regional missense constraint improves variant deleteriousness prediction
24天前
已关闭
Biallelic truncating TTN variants in M‐band encoding exons cause a fetal lethal titinopathy
1个月前
已完结
Cardiovascular risk factors and testing of relatives amongst patients with familial hyperlipidaemia one decade after a clinical trial
1个月前
已完结
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single‐gene testing and next‐generation sequencing in East Asia
2个月前
已完结
Mutations in the SLCO1B3 gene affecting the substrate specificity of the hepatocellular uptake transporter OATP1B3 (OATP8)
2个月前
已完结
Rotor's syndrome
2个月前
已完结
SLCO1B1 and SLCO1B3 genetic mutations in Taiwanese patients with Rotor syndrome
2个月前
已完结
Big can still be great
2个月前
已完结
Dandy–Walker malformation in an individual with ABL1 variant
2个月前
已完结
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