Lv3
368 积分 2023-07-21 加入
The functional impact of 1,570 individual amino acid substitutions in human OTC
2天前
已完结
P786: Utility of whole exome sequencing in desperate prenatal patients
4天前
已完结
Genetic etiologies associated with non-immune hydrops fetalis delineated by whole exome sequencing: A pilot series and its implications in prenatal genetic counseling
4天前
已完结
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1
5天前
已完结
Identification of potential key variants in mandibular premolar hypodontia through whole-exome sequencing
16天前
已完结
Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism
19天前
已完结
Newborn screening for mucopolysaccharidosis type II: Lessons learned
24天前
已完结
[Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II]
24天前
已完结
Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2
24天前
已完结
A simple clinical score to promote and enhance ferroportin disease screening
1个月前
已完结
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