Works matching IS 10184813 AND DT 2013 AND VI 21
Results: 282
Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1369, doi. 10.1038/ejhg.2013.68
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PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1361, doi. 10.1038/ejhg.2013.50
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Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1462, doi. 10.1038/ejhg.2013.57
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An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1389, doi. 10.1038/ejhg.2013.53
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De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1377, doi. 10.1038/ejhg.2013.58
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Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1349, doi. 10.1038/ejhg.2013.86
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Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1423, doi. 10.1038/ejhg.2013.51
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Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1457, doi. 10.1038/ejhg.2013.22
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The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1411, doi. 10.1038/ejhg.2013.60
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Consulting the community: public expectations and attitudes about genetics research.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1338, doi. 10.1038/ejhg.2013.64
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Joint detection of association, imprinting and maternal effects using all children and their parents.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1449, doi. 10.1038/ejhg.2013.49
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Oncogenic mutations and microsatellite instability phenotype predict specific anatomical subsite in colorectal cancer patients.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1383, doi. 10.1038/ejhg.2013.66
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A unifying framework for robust association testing, estimation, and genetic model selection using the generalized linear model.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1442, doi. 10.1038/ejhg.2013.62
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From evolutionary bystander to master manipulator: the emerging roles for the mitochondrial genome as a modulator of nuclear gene expression.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1335, doi. 10.1038/ejhg.2013.75
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Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1396, doi. 10.1038/ejhg.2013.84
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Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1403, doi. 10.1038/ejhg.2013.47
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Evidence for anticipation in Beckwith-Wiedemann syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1344, doi. 10.1038/ejhg.2013.71
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A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1417, doi. 10.1038/ejhg.2013.63
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Homozygosity analysis in amyotrophic lateral sclerosis.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1429, doi. 10.1038/ejhg.2013.59
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Secondary variants - in defense of a more fitting term in the incidental findings debate.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1331, doi. 10.1038/ejhg.2013.89
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Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1356, doi. 10.1038/ejhg.2013.52
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Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1436, doi. 10.1038/ejhg.2013.25
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Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policyEuropean Society of Human Genetics and European Society of Human Reproduction and Embryology.
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- European Journal of Human Genetics, 2013, v. 21, p. S1, doi. 10.1038/ejhg.2013.219
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Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1272, doi. 10.1038/ejhg.2013.32
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Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1219, doi. 10.1038/ejhg.2013.40
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Comparison of genetic variation of breast cancer susceptibility genes in Chinese and German populations.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1286, doi. 10.1038/ejhg.2013.38
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Association between a 15q25 gene variant, nicotine-related habits, lung cancer and COPD among 56 307 individuals from the HUNT study in Norway.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1293, doi. 10.1038/ejhg.2013.26
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MED12 exon 2 mutations in histopathological uterine leiomyoma variants.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1300, doi. 10.1038/ejhg.2013.33
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Citizens' perspectives on personalized medicine: a qualitative public deliberation study.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1197, doi. 10.1038/ejhg.2012.300
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Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1260, doi. 10.1038/ejhg.2013.37
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EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1325, doi. 10.1038/ejhg.2013.83
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The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1253, doi. 10.1038/ejhg.2013.24
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Genetics of eye colours in different rural populations on the Silk Road.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1320, doi. 10.1038/ejhg.2013.41
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Controlling complexity: the clinical relevance of mouse complex genetics.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1191, doi. 10.1038/ejhg.2013.79
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Clinical utility gene card for: Alström Syndrome - update 2013.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1, doi. 10.1038/ejhg.2013.61
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Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1249, doi. 10.1038/ejhg.2013.31
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Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1312, doi. 10.1038/ejhg.2013.27
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Eliciting preferences for priority setting in genetic testing: a pilot study comparing best-worst scaling and discrete-choice experiments.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1202, doi. 10.1038/ejhg.2013.36
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Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1266, doi. 10.1038/ejhg.2013.23
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Population structure, migration, and diversifying selection in the Netherlands.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1277, doi. 10.1038/ejhg.2013.48
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Clinical utility gene card for: Achromatopsia - update 2013.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1, doi. 10.1038/ejhg.2013.44
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Understanding the impact of genetic testing for inherited retinal dystrophy.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1209, doi. 10.1038/ejhg.2013.19
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Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1316, doi. 10.1038/ejhg.2013.45
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Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1226, doi. 10.1038/ejhg.2013.39
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Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1240, doi. 10.1038/ejhg.2013.21
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Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1304, doi. 10.1038/ejhg.2013.42
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Chromosomal evolution: Molecular cytogenetic evolution of mammals.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1330, doi. 10.1038/ejhg.2013.4
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Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1232, doi. 10.1038/ejhg.2013.20
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The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1308, doi. 10.1038/ejhg.2013.43
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Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1214, doi. 10.1038/ejhg.2013.29
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