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Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
3个月前
已完结
Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders
5个月前
已完结
Diagnostic and clinical utility of genetic testing in children with kidney failure
5个月前
已完结
Reassessing the significance of the PAH c.158G>A (p.Arg53His) variant in patients with hyperphenylalaninemia
5个月前
已完结
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population
5个月前
已完结
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
8个月前
已完结
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