Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 6
Results: 22
TSEN54 mutations cause pontocerebellar hypoplasia type 5.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 724, doi. 10.1038/ejhg.2011.8
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Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 727, doi. 10.1038/ejhg.2011.24
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Common variants near TERC are associated with leukocyte telomere length in the Chinese Han population.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 721, doi. 10.1038/ejhg.2011.4
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Bivariate association analysis in selected samples: application to a GWAS of two bone mineral density phenotypes in males with high or low BMD.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 710, doi. 10.1038/ejhg.2011.22
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Parents' and children's communication about genetic risk: a qualitative study, learning from families' experiences.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 640, doi. 10.1038/ejhg.2010.258
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Pathway-based identification of SNPs predictive of survival.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 704, doi. 10.1038/ejhg.2011.3
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Model-Based Multifactor Dimensionality Reduction to detect epistasis for quantitative traits in the presence of error-free and noisy data.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 696, doi. 10.1038/ejhg.2011.17
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Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 682, doi. 10.1038/ejhg.2011.2
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Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 634, doi. 10.1038/ejhg.2010.238
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Clinical utility gene card for: blue cone monochromatism.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 1, doi. 10.1038/ejhg.2010.232
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Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 717, doi. 10.1038/ejhg.2010.244
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Identification of regions of positive selection using Shared Genomic Segment analysis.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 667, doi. 10.1038/ejhg.2010.257
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Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 647, doi. 10.1038/ejhg.2010.256
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Genome-wide association study confirms extant PD risk loci among the Dutch.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 655, doi. 10.1038/ejhg.2010.254
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Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference sets.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 662, doi. 10.1038/ejhg.2011.10
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Clinical utility gene card for: malignant hyperthermia.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 1, doi. 10.1038/ejhg.2010.248
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Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 624, doi. 10.1038/ejhg.2010.259
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von Hippel-Lindau disease: A clinical and scientific review.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 617, doi. 10.1038/ejhg.2010.175
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Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 687, doi. 10.1038/ejhg.2010.251
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Clinical utility gene card for: achromatopsia.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 1, doi. 10.1038/ejhg.2010.231
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Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 672, doi. 10.1038/ejhg.2011.6
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Polymorphisms in MC3R promoter and CTSZ 3′UTR are associated with tuberculosis susceptibility.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 676, doi. 10.1038/ejhg.2011.1
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