Lv2
158 积分 2024-04-24 加入
Gaucher Disease: Identification and Novel Variants in Mexican and Spanish Patients
9小时前
已完结
In Vitro Functional Characterization and in Silico Prediction of Rare Genetic Variation in the Bile Acid and Drug Transporter, Na+-Taurocholate Cotransporting Polypeptide (NTCP, SLC10A1)
1天前
已完结
Genetic architecture of thoracic aortic dissection in the female population
4天前
已完结
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7
7天前
已完结
Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China
7天前
已完结
Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China
7天前
已完结
Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing
7天前
已完结
Analysis of SLC25A13 gene variants in 16 infants with intrahepatic cholestasis caused by citrin protein deficiency
8天前
已完结
Newborn screening for mucopolysaccharidosis type II: Lessons learned
10天前
已完结
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