Lv11
13 积分 2020-09-04 加入
A patient with familial Flegel disease caused by a novel splicing variant in SPTLC1
6小时前
待确认
A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts
7小时前
已完结
The cell biology of ferroptosis
2个月前
已完结
Ubiquitin-specific peptidase 47 (USP47) regulates cutaneous oxidative injury through nicotinamide nucleotide transhydrogenase (NNT)
2个月前
已完结
Mitochondrial Nicotinamide Nucleotide Transhydrogenase: Role in Energy Metabolism, Redox Homeostasis, and Cancer
2个月前
已完结
Nicotinamide Nucleotide Transhydrogenase as a Sensor of Mitochondrial Biology
2个月前
已完结
Mitochondrial oxidative stress mediated Fe-induced ferroptosis via the NRF2-ARE pathway
6个月前
已完结
Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder
6个月前
已关闭
Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation
6个月前
已完结
Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP
6个月前
已完结
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