Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP suppl_2
Results: 22
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R285, doi. 10.1093/hmg/ddg273
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Fly models of Huntington's disease.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R187, doi. 10.1093/hmg/ddg271
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- Article
Genomic microarrays in human genetic disease and cancer.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R145, doi. 10.1093/hmg/ddg261
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Perturbations of chromatin structure in human genetic disease: recent advances.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R207, doi. 10.1093/hmg/ddg260
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- Article
Exposing the MYtH about base excision repair and human inherited disease.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R159, doi. 10.1093/hmg/ddg259
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- Article
Intramembrane-cleaving aspartic proteases and disease: presenilins, signal peptide peptidase and their homologs.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R201, doi. 10.1093/hmg/ddg303
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- Article
Recent advances in the genetics of schizophrenia.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R125, doi. 10.1093/hmg/ddg302
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- Article
Williams–Beuren syndrome: a challenge for genotype–phenotype correlations.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R229, doi. 10.1093/hmg/ddg299
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A fragile balance: FMR1 expression levels.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R249, doi. 10.1093/hmg/ddg298
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The potential role of gene duplications in the evolution of imprinting mechanisms.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R215, doi. 10.1093/hmg/ddg296
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- Article
Pathogenesis of polyglutamine disorders: aggregation revisited.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R173, doi. 10.1093/hmg/ddg295
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PTEN: tumour suppressor, multifunctional growth regulator and more.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R239, doi. 10.1093/hmg/ddg288
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Towards integrated clinico-genomic models for personalized medicine: combining gene expression signatures and clinical factors in breast cancer outcomes prediction.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R153, doi. 10.1093/hmg/ddg287
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DNA methylation and Rett syndrome.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R221, doi. 10.1093/hmg/ddg286
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- Article
Disorders of mitochondrial protein synthesis.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R293, doi. 10.1093/hmg/ddg285
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- Article
The zebrafish as a model for muscular dystrophy and congenital myopathy.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R265, doi. 10.1093/hmg/ddg279
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Proteomics of heart disease.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R135, doi. 10.1093/hmg/ddg278
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Extracellular proteases and their inhibitors ingenetic diseases of the central nervous system.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R195, doi. 10.1093/hmg/ddg276
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Therapeutic gene silencing in the nervous system.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R279, doi. 10.1093/hmg/ddg275
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- Article
Of mice and (wo)men: genotype–phenotype correlations in BRCA1.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R271, doi. 10.1093/hmg/ddg258
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- Article
Glycosylation defects: a new mechanism for muscular dystrophy?
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R259, doi. 10.1093/hmg/ddg272
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- Article
The Newfoundland population: a unique resource for genetic investigation of complex diseases†.
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- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R167, doi. 10.1093/hmg/ddg257
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