Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 8
Results: 19
Permutation-based approaches do not adequately allow for linkage disequilibrium in gene-wide multi-locus association analysis.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 890, doi. 10.1038/ejhg.2012.8
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Characterization of the intronic portion of cadherin superfamily members, common cancer orchestrators.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 878, doi. 10.1038/ejhg.2012.11
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C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 870, doi. 10.1038/ejhg.2012.12
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High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 905, doi. 10.1038/ejhg.2012.23
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Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. e1, doi. 10.1038/ejhg.2012.64
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- Article
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 863, doi. 10.1038/ejhg.2012.16
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Direct-to-consumer genomic testing: systematic review of the literature on user perspectives.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 811, doi. 10.1038/ejhg.2012.18
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An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 825, doi. 10.1038/ejhg.2012.13
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Clinical utility gene card for: Abetalipoproteinaemia.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. e1, doi. 10.1038/ejhg.2012.30
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Syndactyly: phenotypes, genetics and current classification.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 817, doi. 10.1038/ejhg.2012.14
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Genome-wide analysis of epistasis in body mass index using multiple human populations.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 857, doi. 10.1038/ejhg.2012.17
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Mutations in the mitochondrial tRNA<sup>Ser(AGY)</sup> gene are associated with deafness, retinal degeneration, myopathy and epilepsy.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 897, doi. 10.1038/ejhg.2012.44
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One thing leads to another: the cascade of obligations when researchers report genetic research results to study participants.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 837, doi. 10.1038/ejhg.2012.24
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19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 852, doi. 10.1038/ejhg.2012.19
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Clinical utility gene card for: Familial Hypobetalipoproteinaemia (APOB).
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. e1, doi. 10.1038/ejhg.2012.30
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COL4A2 mutation associated with familial porencephaly and small-vessel disease.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 844, doi. 10.1038/ejhg.2012.20
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Estimating the contribution of genetic variants to difference in incidence of disease between population groups.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 831, doi. 10.1038/ejhg.2012.15
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- Article
Mutations in the mitochondrial tRNA<sup>Ser(AGY)</sup> gene are associated with deafness, retinal degeneration, myopathy and epilepsy.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 910, doi. 10.1038/ejhg.2012.123
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- Article
Gucy2f zebrafish knockdown - a model for Gucy2d-related leber congenital amaurosis.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 884, doi. 10.1038/ejhg.2012.10
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- Article