Lv7
5000 积分 2023-11-02 加入
First patient diagnosed with lipoprotein glomerulopathy and Alport syndrome
1天前
已完结
Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations
8天前
已完结
Renal Expression of CLC-5 and Megalin/Cubilin in Dent-1 Disease With Nonsense Mutations of CLCN5 Gene
20天前
已完结
Genetic and clinical profile of patients with hypophosphatemic rickets
20天前
已完结
Genetic characterization of DDX11 variants identified in a Chinese family with Warsaw breakage syndrome
1个月前
已完结
Congenital muscular dystrophies with defective glycosylation of dystroglycan
1个月前
已完结
Gene mutations impede oocyte maturation, fertilization, and early embryonic development
1个月前
已完结
MARRVEL-MCP: An agentic interface for Mendelian disease discovery via tool-augmented context engineering
1个月前
已完结
Frequent Occurrence of the CFTR Intron 8 (TG)n 5T Allele in Men with Congenital Bilateral Absence of the Vas Deferens
1个月前
已完结
RNASEH2C c. 194G >A is a Chinese‐specific founder mutation in three unrelated patients with Aicardi‐Goutières syndrome 3
2个月前
已完结
皖公网安备34019202002308
