Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 12
Results: 22
Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1369, doi. 10.1038/ejhg.2013.68
- By:
- Publication type:
- Article
PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1361, doi. 10.1038/ejhg.2013.50
- By:
- Publication type:
- Article
Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1462, doi. 10.1038/ejhg.2013.57
- By:
- Publication type:
- Article
An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1389, doi. 10.1038/ejhg.2013.53
- By:
- Publication type:
- Article
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1377, doi. 10.1038/ejhg.2013.58
- By:
- Publication type:
- Article
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1349, doi. 10.1038/ejhg.2013.86
- By:
- Publication type:
- Article
Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1423, doi. 10.1038/ejhg.2013.51
- By:
- Publication type:
- Article
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1457, doi. 10.1038/ejhg.2013.22
- By:
- Publication type:
- Article
The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1411, doi. 10.1038/ejhg.2013.60
- By:
- Publication type:
- Article
Consulting the community: public expectations and attitudes about genetics research.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1338, doi. 10.1038/ejhg.2013.64
- By:
- Publication type:
- Article
Joint detection of association, imprinting and maternal effects using all children and their parents.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1449, doi. 10.1038/ejhg.2013.49
- By:
- Publication type:
- Article
Oncogenic mutations and microsatellite instability phenotype predict specific anatomical subsite in colorectal cancer patients.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1383, doi. 10.1038/ejhg.2013.66
- By:
- Publication type:
- Article
A unifying framework for robust association testing, estimation, and genetic model selection using the generalized linear model.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1442, doi. 10.1038/ejhg.2013.62
- By:
- Publication type:
- Article
From evolutionary bystander to master manipulator: the emerging roles for the mitochondrial genome as a modulator of nuclear gene expression.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1335, doi. 10.1038/ejhg.2013.75
- By:
- Publication type:
- Article
Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1396, doi. 10.1038/ejhg.2013.84
- By:
- Publication type:
- Article
Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1403, doi. 10.1038/ejhg.2013.47
- By:
- Publication type:
- Article
Evidence for anticipation in Beckwith-Wiedemann syndrome.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1344, doi. 10.1038/ejhg.2013.71
- By:
- Publication type:
- Article
A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1417, doi. 10.1038/ejhg.2013.63
- By:
- Publication type:
- Article
Homozygosity analysis in amyotrophic lateral sclerosis.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1429, doi. 10.1038/ejhg.2013.59
- By:
- Publication type:
- Article
Secondary variants - in defense of a more fitting term in the incidental findings debate.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1331, doi. 10.1038/ejhg.2013.89
- By:
- Publication type:
- Article
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1356, doi. 10.1038/ejhg.2013.52
- By:
- Publication type:
- Article
Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1436, doi. 10.1038/ejhg.2013.25
- By:
- Publication type:
- Article