Lv52
1110 积分 2025-05-19 加入
FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome
11天前
已完结
PPARβ/δ activation protects against hepatic ischaemia–reperfusion injury
12天前
已完结
Cascade screening for familial hypercholesterolemia should be organized at a national level
12天前
已完结
NOL10 variant disrupts ribosome biogenesis and underlies hippocampal sclerosis
13天前
已关闭
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
13天前
已完结
KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models
17天前
已关闭
Identification of the novel homozygous whole exon deletion in MEI1 underlying azoospermia and embryonic arrest in one consanguineous family
22天前
已完结
Novel App knock-in mouse model shows key features of amyloid pathology and reveals profound metabolic dysregulation of microglia
26天前
已完结
Unraveling Primary Familial Brain Calcification Mechanisms: Are NAA60 and SLC20A2 Partners in Crime?
26天前
已完结
Pathophysiology of Primary Familial Brain Calcification
26天前
已关闭
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