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950 积分 2024-07-24 加入
Incomplete penetrance in neurogenetic disorders: current insights and emerging perspectives
28天前
已关闭
Improved therapeutic efficacy in two mouse models of methylmalonic acidemia (MMA) using a second-generation mRNA therapy
1个月前
已完结
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China
2个月前
已完结
Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD
2个月前
已完结
Genetic Association of Lipids and Lipid-Lowering Drug Target Genes With Attention Deficit Hyperactivity Disorder
3个月前
已完结
Identification of a Splicing Variant c.3813-3A>G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis
3个月前
已完结
Pathogenic characterization and drug resistance of neonatal sepsis in China: a systematic review and meta-analysis
4个月前
已完结
Pathogenic characterization and drug resistance of neonatal sepsis in China: a systematic review and meta-analysis
4个月前
已完结
Cross-species transcriptomic analysis reveals a conserved miRNA signature targeting MMUT in methylmalonic acidemia: implications for diagnosis and therapy
5个月前
已完结
Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia
5个月前
已完结
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