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890 积分 2024-11-26 加入
Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype
19天前
已完结
Munc18 modulates syntaxin phase separation to promote exocytosis
1个月前
已完结
STXBP1 encephalopathy
1个月前
已关闭
STXBP1 Encephalopathy: Cannabidiol as a Treatment Option and Expansion of the Genotype-Phenotype Spectrum – Case Reports
1个月前
已完结
[Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2]
1个月前
已完结
[Analysis of NF1 gene variants among thirteen patients with neurofibromatosis type 1]
2个月前
已完结
[Identification of two novel variants of the PCCB gene in a pedigree affected with propionic acidemia]
2个月前
已完结
[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency]
2个月前
已完结
[In vitro expression and structural analysis of four missense mutations (G247S, E280G, P362T, A434D) of phenylalanine hydroxylase gene]
2个月前
已关闭
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency
3个月前
已关闭
Translational evaluation of translocator protein as a marker of neuroinflammation in schizophrenia
4个月前
已采纳
SaulerLab/COPD_snRNA-seq: Aberrant Cellular Communities Underlying Disease Heterogeneity in Chronic Obstructive Pulmonary Disease
4个月前
已采纳
The development of carbon-neutral data centres in space
4个月前
已采纳
Harnessing interfaces for direct air capture
4个月前
已采纳
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