Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 18
Results: 15
Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2695, doi. 10.1093/hmg/ddi303
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- Article
A comparison of tagging methods and their tagging space.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2757, doi. 10.1093/hmg/ddi309
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- Article
Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2737, doi. 10.1093/hmg/ddi307
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- Article
Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2727, doi. 10.1093/hmg/ddi306
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- Article
Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2717, doi. 10.1093/hmg/ddi305
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- Article
Deletions on mouse Yq lead to upregulation of multiple X- and Y-linked transcripts in spermatids.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2705, doi. 10.1093/hmg/ddi304
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- Article
Molecular pathogenesis of Parkinson's disease.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2749, doi. 10.1093/hmg/ddi308
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- Article
Rad50 depletion impacts upon ATR-dependent DNA damage responses.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2685, doi. 10.1093/hmg/ddi302
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- Article
Aberrant recombination involving the granzyme locus occurs in Atm<sup>−/−</sup> T-cell lymphomas.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2671, doi. 10.1093/hmg/ddi301
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- Article
Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2649, doi. 10.1093/hmg/ddi299
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- Article
Functional promoter SNPs in cell cycle checkpoint genes.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2641
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- Article
HoxB2 binds mutant SOD1 and is altered in transgenic model of ALS.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2629, doi. 10.1093/hmg/ddi297
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- Article
Sense and antisense transcripts of the apolipoprotein E gene in normal and ApoE knockout mice, their expression after spinal cord injury and corresponding human transcripts.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2661, doi. 10.1093/hmg/ddi296
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- Article
The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2619, doi. 10.1093/hmg/ddi295
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- Article
Functional interaction between −629C/A, −971G/A and −1337C/T polymorphisms in the CETP gene is a major determinant of promoter activity and plasma CETP concentration in the REGRESS Study.
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- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2607, doi. 10.1093/hmg/ddi291
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- Article