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Stefano Pietropaoli et al.
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FUNNEL-GSEA: FUNctioNal ELastic-net regression in time-course gene set enrichment analysis
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KEGG as a reference resource for gene and protein annotation
Minoru Kanehisa et al.
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Chih-Hong Lou et al.
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StringTie enables improved reconstruction of a transcriptome from RNA-seq reads
Mihaela Pertea et al.
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Ballgown bridges the gap between transcriptome assembly and expression analysis
Alyssa C. Frazee et al.
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Tissue-based map of the human proteome
Mathias Uhlen et al.
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Mark Charman et al.
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Lam S. Nguyen et al.
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A New Transgenic Mouse Model for Studying the Neurotoxicity of Spermine Oxidase Dosage in the Response to Excitotoxic Injury
Manuela Cervelli et al.
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Molecular signatures database (MSigDB) 3.0
Arthur Liberzon et al.
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Characterization of SMG-9, an essential component of the nonsense-mediated mRNA decay SMG1C complex
Israel S. Fernandez et al.
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edgeR: a Bioconductor package for differential expression analysis of digital gene expression data
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H Kokubo et al.
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Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise
JT Mendell et al.
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HES and HERP families: Multiple effectors of the Notch signaling pathway
T Iso et al.
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Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay
A Yamashita et al.
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