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10 积分 2024-02-28 加入
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes
1天前
待确认
SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1–Nrf2
1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]
1个月前
已完结
Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome
1个月前
已完结
Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome
1个月前
已关闭
Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome
1个月前
已关闭
Spectrum of sequence variation in theFANCG gene: An International Fanconi Anemia Registry (IFAR) study
1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
2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
2个月前
已关闭
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene
2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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