Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 9
Results: 13
Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families.
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- Human Molecular Genetics, 2003, v. 12, n. 9, p. 1055, doi. 10.1093/hmg/ddg120
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- Article
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.
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- Human Molecular Genetics, 2003, v. 12, n. 9, p. 949, doi. 10.1093/hmg/ddg114
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- Article
Spontaneous deletion of epilepsy gene orthologs in a mutant mouse with a low electroconvulsive threshold.
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- Human Molecular Genetics, 2003, v. 12, n. 9, p. 975, doi. 10.1093/hmg/ddg118
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- Article
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.
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- Human Molecular Genetics, 2003, v. 12, n. 9, p. 1073, doi. 10.1093/hmg/ddg117
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- Article
Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness.
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- Human Molecular Genetics, 2003, v. 12, n. 9, p. 995, doi. 10.1093/hmg/ddg116
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- Article
Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.
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- Human Molecular Genetics, 2003, v. 12, n. 9, p. 1045, doi. 10.1093/hmg/ddg115
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- Article
Production of MPS VII mouse (Gustm(hE540A·mE536A)Sly) doubly tolerant to human and mouse β-glucuronidase.
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- Human Molecular Genetics, 2003, v. 12, n. 9, p. 961, doi. 10.1093/hmg/ddg119
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- Article
Integration of the cytogenetic map with the draft human genome sequence.
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- Human Molecular Genetics, 2003, v. 12, n. 9, p. 1037, doi. 10.1093/hmg/ddg113
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- Article
Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in mice deficient for destrin (actin depolymerizing factor).
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- Human Molecular Genetics, 2003, v. 12, n. 9, p. 1029, doi. 10.1093/hmg/ddg112
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- Article
Candidate DNA replication initiation regions at human trinucleotide repeat disease loci.
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- Human Molecular Genetics, 2003, v. 12, n. 9, p. 1021, doi. 10.1093/hmg/ddg111
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- Article
Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark.
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- Human Molecular Genetics, 2003, v. 12, n. 9, p. 1005, doi. 10.1093/hmg/ddg110
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- Article
Raised intracellular glucose concentrations reduce aggregation and cell death caused by mutant huntingtin exon 1 by decreasing mTOR phosphorylation and inducing autophagy.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 9, p. 985, doi. 10.1093/hmg/ddg109
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- Article
Structure–function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 9, p. 1063, doi. 10.1093/hmg/ddg108
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- Article