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30 积分 2025-07-22 加入
Somatic PKD2 Mutations in Individual Kidney and Liver Cysts Support a “Two-Hit” Model of Cystogenesis in Type 2 Autosomal Dominant Polycystic Kidney Disease
2天前
求助中
Hearing Features and Cochlear Implantation Outcomes in Patients With PathogenicMYO15AVariants: a Multicenter Observational Study
2天前
已完结
Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations
4天前
已完结
Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome: A Family Report
5天前
已完结
Genetic analysis of LRRK2 in Parkinson's disease in Han Chinese population
5天前
已完结
Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
8天前
已完结
Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome
9天前
已完结
New insights intoCC2D2A-related Joubert syndrome
7个月前
已完结
[Advances in clinical and molecular genetics studies on argininemia]
9个月前
已完结
[Seven patients of argininemia with spastic tetraplegia as the first and major symptom and prenatal diagnosis of two fetuses with high risk]
9个月前
已完结
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