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20 积分 2026-01-14 加入
Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene
4小时前
待确认
Neonatal jaundice caused by compound mutations of SLC10A1 and a novel UGT1A1 gene
2个月前
已完结
Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing
2个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
2个月前
已完结
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