Lv2
120 积分 2024-03-21 加入
The longitudinal triglyceride phenotype in heterozygotes with LPL pathogenic variants
7天前
已完结
Vicious cycle of hypertriglyceridaemia and hyperglycaemia in an atypical case of lipoprotein lipase deficiency
7天前
已完结
Cholangiocarcinoma with STRN-ALK translocation treated with ALK inhibitors
24天前
已完结
Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency
1个月前
已完结
Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients
1个月前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
1个月前
已完结
[Chinese Medical Association guideline for clinical diagnosis and treatment of lung cancer (2024 edition)]
2个月前
已完结
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes
2个月前
已完结
Forty‐seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs
2个月前
已完结
Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome
2个月前
已完结
Kilohertz two-photon brain imaging in awake mice
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