Lv6
1968 积分 2025-05-07 加入
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
2天前
已完结
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene
2天前
已完结
Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations
10天前
已完结
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations
14天前
已完结
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants
14天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
17天前
已完结
Clinical exome sequencing findings in 1589 patients
17天前
已完结
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population
18天前
已完结
Mutations in the FVIII gene in seven families with mild haemophilia A
18天前
已关闭
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