Lv721
5000 积分 2024-04-14 加入
Identification of KANSL1 as a novel pathogenic gene for developmental dysplasia of the hip
1天前
已完结
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
5天前
已完结
Genotypes and phenotypes of capillary malformation–arteriovenous malformation: characterization and correlation analysis
11天前
已完结
Genotypes and phenotypes of capillary malformation–arteriovenous malformation: characterization and correlation analysis
11天前
已完结
Small nuclear RNA genes in Mendelian disorders
22天前
已完结
Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV)
29天前
已完结
The role of genetic testing in small for gestational age infants
1个月前
已完结
The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase
1个月前
已完结
Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience
3个月前
已完结
Red Blood Cell Disorders in Newborns: Bridging Traditional and Modern Diagnostics
3个月前
已完结
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