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10 积分 2021-11-05 加入
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations
1天前
已关闭
A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis
1天前
已完结
Molecular Analyses of Pyruvate Kinase Deficient Turkish Patients from a Single Center
1天前
已完结
A novel PKLR gene mutation identified using advanced molecular techniques
5天前
已完结
A novel PKLR gene mutation identified using advanced molecular techniques
5天前
已完结
Novel PLKR mutations in four families with pyruvate kinase deficiency
5天前
已完结
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function
5天前
已完结
Factors predicting the occurrence of disease-causing variants on next-generation sequencing in children with steroid-resistant nephrotic syndrome — implications for resource-constrained settings
6天前
已完结
Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency
10天前
已完结
Characterization of Somatostatin Receptor 2 Gene Expression and Immune Landscape in Sinonasal Malignancies
2个月前
已完结
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