Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 7
Results: 20
Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutants.
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- Human Mutation, 2011, v. 32, n. 7, p. 794, doi. 10.1002/humu.21506
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A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).
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- Human Mutation, 2011, v. 32, n. 7, p. 751, doi. 10.1002/humu.21494
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Update on SLC26A3 mutations in congenital chloride diarrhea.
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- Human Mutation, 2011, v. 32, n. 7, p. 715, doi. 10.1002/humu.21498
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A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.
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- Human Mutation, 2011, v. 32, n. 7, p. 773, doi. 10.1002/humu.21501
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DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
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- Human Mutation, 2011, v. 32, n. 7, p. 825, doi. 10.1002/humu.21512
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Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.
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- Human Mutation, 2011, v. 32, n. 7, p. 853, doi. 10.1002/humu.21523
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Mutation update for the PORCN gene.
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- Human Mutation, 2011, v. 32, n. 7, p. 723, doi. 10.1002/humu.21505
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Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.
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- Human Mutation, 2011, v. 32, n. 7, p. 843, doi. 10.1002/humu.21516
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U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.
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- Human Mutation, 2011, v. 32, n. 7, p. 815, doi. 10.1002/humu.21509
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Identification of Novel Exon and Transcript of EHMTI Improves Kleefstra Syndrome Diagnosis and Highlights Limitations of Our Current Knowledge of the Human Genome.
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- Human Mutation, 2011, v. 32, n. 7, p. v, doi. 10.1002/humu.21549
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Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans.
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- Human Mutation, 2011, v. 32, n. 7, p. 806, doi. 10.1002/humu.21508
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SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
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- Human Mutation, 2011, v. 32, n. 7, p. 760, doi. 10.1002/humu.21492
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A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism.
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- Human Mutation, 2011, v. 32, n. 7, p. 705, doi. 10.1002/humu.21500
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- Article
Breakage-Fusion-Bridge Cycles Causing Chromosome Instability in Human Cleavage Stage Embryos.
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- Human Mutation, 2011, v. 32, n. 7, p. v, doi. 10.1002/humu.21548
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Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.
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- Human Mutation, 2011, v. 32, n. 7, p. 710, doi. 10.1002/humu.21503
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WAVe: web analysis of the variome.
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- Human Mutation, 2011, v. 32, n. 7, p. 729, doi. 10.1002/humu.21499
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Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos.
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- Human Mutation, 2011, v. 32, n. 7, p. 783, doi. 10.1002/humu.21502
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Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.
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- Human Mutation, 2011, v. 32, n. 7, p. 735, doi. 10.1002/humu.21513
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Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
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- Human Mutation, 2011, v. 32, n. 7, p. 835, doi. 10.1002/humu.21514
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A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia.
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- Human Mutation, 2011, v. 32, n. 7, p. 743, doi. 10.1002/humu.21491
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- Article