Lv5
890 积分 2024-11-26 加入
Munc18 modulates syntaxin phase separation to promote exocytosis
11天前
已完结
STXBP1 encephalopathy
25天前
已关闭
STXBP1 Encephalopathy: Cannabidiol as a Treatment Option and Expansion of the Genotype-Phenotype Spectrum – Case Reports
26天前
已完结
[Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2]
27天前
已完结
[Analysis of NF1 gene variants among thirteen patients with neurofibromatosis type 1]
1个月前
已完结
[Identification of two novel variants of the PCCB gene in a pedigree affected with propionic acidemia]
1个月前
已完结
[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency]
1个月前
已完结
[In vitro expression and structural analysis of four missense mutations (G247S, E280G, P362T, A434D) of phenylalanine hydroxylase gene]
1个月前
已关闭
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency
2个月前
已关闭
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia
3个月前
已完结
Translational evaluation of translocator protein as a marker of neuroinflammation in schizophrenia
3个月前
已采纳
SaulerLab/COPD_snRNA-seq: Aberrant Cellular Communities Underlying Disease Heterogeneity in Chronic Obstructive Pulmonary Disease
3个月前
已采纳
The development of carbon-neutral data centres in space
3个月前
已采纳
Harnessing interfaces for direct air capture
3个月前
已采纳
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