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400 积分 2024-11-05 加入
是要看好多文章的打工人啊
Clinical Features and Genetic Sequencing of Children with Fanconi–Bickel Syndrome
34分钟前
待确认
Genetic and clinical profile of patients with hypophosphatemic rickets
41分钟前
待确认
Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster
6小时前
已完结
Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review
22小时前
已完结
Determining the genetic contribution in patients with non-syndromic ascending thoracic aortic aneurysms: Correlation with findings from computational pathology
23小时前
已关闭
Paris I Dysfibrinogenemia: A Point Mutation in Intron 8 Results in Insertion of a 15 Amino Acid Sequence in the Fibrinogen γ-Chain
1天前
已完结
Paris I dysfibrinogenemia: a point mutation in intron 8 results in insertion of a 15 amino acid sequence in the fibrinogen gamma-chain
1天前
已关闭
Mitochondrial respiratory complexes: Significance in human mitochondrial disorders and cancers
1天前
已完结
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies
1天前
已完结
SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses
3天前
已完结
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