Lv61
1740 积分 2022-05-04 加入
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia
2小时前
已完结
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
24天前
已完结
Genetic risk assessment in carrier testing for spinal muscular atrophy
2个月前
已完结
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain
3个月前
已完结
Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy
3个月前
已完结
Potential therapeutic target of EGF on bile duct ligation model and biliary atresia children. Pediatr Res
5个月前
已完结
Genetic and lipidomic analyses reveal the key role of lipid metabolism for cold tolerance in maize
5个月前
已完结
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
5个月前
已完结
Identification and characterization of a spinal muscular atrophy-determining gene
5个月前
已完结
Spinal muscular atrophy
5个月前
已完结
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