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ATP7B Genotype and Chronic Liver Disease Treatment Outcomes in Wilson Disease: Worse Survival With Loss-of-Function Variants
7小时前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
7小时前
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[Phenotype and genotype analysis of 55 children patients with Wilson's disease]
8小时前
已完结
Congenital myasthenic syndromes: recent advances
2天前
已完结
Congenital myasthenic syndromes: recent advances
2天前
已完结
Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis
8天前
已完结
A Study of Familial Amyloid Polyneuropathy Induced by the TTR Val30Leu Mutation in China
10天前
已完结
Lenz–Majewski syndrome in a patient from Egypt
14天前
已完结
KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases
21天前
已完结
[Expert consensus on the diagnosis and treatment of Alport syndrome (version 2023)]
21天前
已完结
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