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26 积分 2024-05-31 加入
Exploring genotype-phenotype correlation in nucleoporin nephropathy
1天前
已完结
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome
7天前
已完结
Branchio-oto-renal syndrome (BOR): novel mutations in theEYA1gene, and a review of the mutational genetics of BOR
7天前
已完结
Advances in lipodystrophy syndrome caused by LMNA gene mutation
8天前
已关闭
LMNA mutations in atypical Werner's syndrome
8天前
已完结
Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers
8天前
已完结
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis
10天前
已完结
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome
14天前
已完结
Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I
15天前
已完结
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