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30 积分 2024-02-28 加入
Pseudoxanthoma Elasticum Is a Recessive Disease Characterized by Compound Heterozygosity
1天前
待确认
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy
2天前
已完结
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes
1个月前
已完结
SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1–Nrf2
3个月前
已完结
[Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening]
3个月前
已完结
Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome
3个月前
已完结
Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome
3个月前
已关闭
Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome
3个月前
已关闭
Spectrum of sequence variation in theFANCG gene: An International Fanconi Anemia Registry (IFAR) study
3个月前
已完结
Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations
4个月前
已完结
DFT study of interaction of O, O2, and OH with unreconstructed Pt(hkl) (h, k, l = 0, 1) surfaces—similarities, differences, and universalities
An inordinate fondness for beetles
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