Lv61
1750 积分 2022-05-04 加入
A rare ACAN non-canonical splicing-site intron variant results in familial short stature
20天前
已完结
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia
1个月前
已完结
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
2个月前
已完结
Genetic risk assessment in carrier testing for spinal muscular atrophy
4个月前
已完结
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain
4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
5个月前
已完结
Potential therapeutic target of EGF on bile duct ligation model and biliary atresia children. Pediatr Res
7个月前
已完结
Genetic and lipidomic analyses reveal the key role of lipid metabolism for cold tolerance in maize
7个月前
已完结
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
7个月前
已完结
Identification and characterization of a spinal muscular atrophy-determining gene
7个月前
已完结
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