Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 2
Results: 22
Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength gene.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 208, doi. 10.1038/ejhg.2010.173
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- Publication type:
- Article
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 157, doi. 10.1038/ejhg.2010.156
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- Publication type:
- Article
Estimating penetrance from multiple case families with predisposing mutations: extension of the 'genotype-restricted likelihood' (GRL) method.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 173, doi. 10.1038/ejhg.2010.158
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- Publication type:
- Article
Genomic analysis of partial 21q monosomies with variable phenotypes.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 235, doi. 10.1038/ejhg.2010.150
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- Publication type:
- Article
Advanced age increases chromosome structural abnormalities in human spermatozoa.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 145, doi. 10.1038/ejhg.2010.166
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- Publication type:
- Article
Does heritability hide in epistasis between linked SNPs?
- Published in:
- 2011
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- Publication type:
- Letter
Empowerment: qualitative underpinning of a new clinical genetics-specific patient-reported outcome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 125, doi. 10.1038/ejhg.2010.160
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- Publication type:
- Article
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 138, doi. 10.1038/ejhg.2010.171
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- Publication type:
- Article
The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groups.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 224, doi. 10.1038/ejhg.2010.162
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- Publication type:
- Article
Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy.
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- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 231, doi. 10.1038/ejhg.2010.148
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- Publication type:
- Article
Does the HSD17B10 gene escape from X-inactivation?
- Published in:
- 2011
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- Publication type:
- Letter
Gene-based interaction analysis by incorporating external linkage disequilibrium information.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 164, doi. 10.1038/ejhg.2010.164
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- Publication type:
- Article
Caution in generalizing known genetic risk markers for breast cancer across all ethnic/racial populations.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 243, doi. 10.1038/ejhg.2010.185
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- Publication type:
- Article
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 186, doi. 10.1038/ejhg.2010.144
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- Publication type:
- Article
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome.
- Published in:
- 2011
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- Publication type:
- Case Study
Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 200, doi. 10.1038/ejhg.2010.169
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- Publication type:
- Article
In the heartland of Eurasia: the multilocus genetic landscape of Central Asian populations.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 216, doi. 10.1038/ejhg.2010.153
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- Publication type:
- Article
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 152, doi. 10.1038/ejhg.2010.168
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- Publication type:
- Article
Reply to He et al.
- Published in:
- 2011
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- Publication type:
- Letter
Genome-wide association of breast cancer: composite likelihood with imputed genotypes.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 194, doi. 10.1038/ejhg.2010.157
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- Publication type:
- Article
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 131, doi. 10.1038/ejhg.2010.147
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- Publication type:
- Article
Discriminative accuracy of genomic profiling comparing multiplicative and additive risk models.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 180, doi. 10.1038/ejhg.2010.165
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- Publication type:
- Article