Lv21
170 积分 2024-06-18 加入
Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR)
1小时前
已完结
Identification of POLA1 gene deep intronic mutation confirms diagnosis of X-linked reticulate pigmentary disorder in a Chinese patient
2小时前
求助中
Thiamine analogues featuring amino-oxetanes as potent and selective inhibitors of pyruvate dehydrogenase
8天前
已完结
Mitochondria-targeting iridium(III) complex enhances anticancer activity via PDK inhibition and energy metabolism disruption
8天前
已完结
Cyclic peptide-decorated PtIV-DCA prodrug triggers ferroptosis in glioblastoma via the disruption of energy metabolism
8天前
已完结
SCN1A intronic variants impact on Nav1.1 protein expression and sodium channel function, and associated with epilepsy phenotypic severity
14天前
已关闭
Identification of the promoter region and the 5′‐untranslated exons of the human voltage‐gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5′‐untranslated exons
14天前
已完结
DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders
19天前
已完结
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
1个月前
已完结
How could perampanel, a potent AMPAergic antagonist, inhibit seizures but largely spare normal neurotransmission?
1个月前
已完结
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