Found: 27
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Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 977, doi. 10.1038/ejhg.2012.279
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- Article
Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 994, doi. 10.1038/ejhg.2012.277
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- Article
Empirical power of very rare variants for common traits and disease: results from sanger sequencing 1998 individuals.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1027, doi. 10.1038/ejhg.2012.284
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- Article
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 918, doi. 10.1038/ejhg.2012.283
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- Article
Broad consent versus dynamic consent in biobank research: Is passive participation an ethical problem?
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 897, doi. 10.1038/ejhg.2012.282
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- Article
Trends in maternal age distribution and the live birth prevalence of Down's syndrome in England and Wales: 1938-2010.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1032, doi. 10.1038/ejhg.2013.103
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André Boué (1925-2012).
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 893, doi. 10.1038/ejhg.2013.127
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The population prevalence of Down's syndrome in England and Wales in 2011.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1033, doi. 10.1038/ejhg.2013.104
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- Article
Mosaic copy number variation in schizophrenia.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1007, doi. 10.1038/ejhg.2012.287
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Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1031, doi. 10.1038/ejhg.2013.121
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Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1020, doi. 10.1038/ejhg.2012.291
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Comparative study of artificial chromosome centromeres in human and murine cells.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 948, doi. 10.1038/ejhg.2012.296
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- Article
The population prevalence of Down's syndrome in England and Wales in 2011.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1016, doi. 10.1038/ejhg.2012.294
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- Article
Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 988, doi. 10.1038/ejhg.2012.293
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Genomic correlates of variability in immune response to an oral cholera vaccine.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1000, doi. 10.1038/ejhg.2012.278
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- Article
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 957, doi. 10.1038/ejhg.2012.274
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- Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1031, doi. 10.1038/ejhg.2013.91
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A follow-up linkage study of Finnish pre-eclampsia families identifies a new fetal susceptibility locus on chromosome 18.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1024, doi. 10.1038/ejhg.2013.6
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Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 911, doi. 10.1038/ejhg.2012.289
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APC gene hypermethylation and prostate cancer: a systematic review and meta-analysis.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 929, doi. 10.1038/ejhg.2012.281
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- Article
Trends in maternal age distribution and the live birth prevalence of Down's syndrome in England and Wales: 1938-2010.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 943, doi. 10.1038/ejhg.2012.288
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- Article
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 936, doi. 10.1038/ejhg.2012.285
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- Article
Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 970, doi. 10.1038/ejhg.2012.275
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Persistence and transmission of recessive deafness and sign language: new insights from village sign languages.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 894, doi. 10.1038/ejhg.2012.292
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Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1012, doi. 10.1038/ejhg.2012.290
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Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 965, doi. 10.1038/ejhg.2012.280
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Exploring resources for intrafamilial communication of cancer genetic risk: we still need to talk.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 903, doi. 10.1038/ejhg.2012.286
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