Lv5
1388 积分 2023-08-18 加入
UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression
2天前
已完结
A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia
20天前
已关闭
Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges
23天前
已完结
[Analysis of three families with recurrence of non-immune hydrops fetalis by trio whole exome sequencing]
27天前
已完结
Genotype–phenotype associations in SCN1A -related epilepsies
1个月前
已完结
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
1个月前
已完结
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
1个月前
已完结
Distinctive regional-specific PROS1 mutation spectrum in Southern China
2个月前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
2个月前
已完结
Pathogenicity analysis and functional prediction of a rare LDLR variant in familial hypercholesterolemia combined with Wilson disease
2个月前
已完结
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