Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 11
Results: 19
Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1189, doi. 10.1038/ejhg.2012.63
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- Article
Attitudes of general practitioners and midwives towards ethnicity-based haemoglobinopathy-carrier screening.
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- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1112, doi. 10.1038/ejhg.2012.72
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- Article
Pathway-based genome-wide association analysis of coronary heart disease identifies biologically important gene sets.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1168, doi. 10.1038/ejhg.2012.66
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- Publication type:
- Article
Mini-haplotypes as lineage informative SNPs and ancestry inference SNPs.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1148, doi. 10.1038/ejhg.2012.69
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- Publication type:
- Article
Meta-analysis of genetic association studies under heterogeneity.
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- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1174, doi. 10.1038/ejhg.2012.75
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- Article
De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1197, doi. 10.1038/ejhg.2012.78
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- Publication type:
- Article
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1134, doi. 10.1038/ejhg.2012.77
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- Publication type:
- Article
Genome-wide scan with nearly 700 000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selection.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1155, doi. 10.1038/ejhg.2012.65
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- Article
Quality assurance practices in Europe: a survey of molecular genetic testing laboratories.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1118, doi. 10.1038/ejhg.2012.125
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- Article
Authors muscle in on history: The History of a Genetic Disease Duchenne Muscular Dystrophy or Meryon's disease.
- Published in:
- 2012
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- Publication type:
- Book Review
Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1193, doi. 10.1038/ejhg.2012.76
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- Article
Toward a roadmap in global biobanking for health.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1105, doi. 10.1038/ejhg.2012.96
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- Publication type:
- Article
Deeper than the skin: Genetic Skin Disorders.
- Published in:
- 2012
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- Publication type:
- Book Review
CNVs leading to fusion transcripts in individuals with autism spectrum disorder.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1141, doi. 10.1038/ejhg.2012.73
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- Publication type:
- Article
Symptom dimensions as alternative phenotypes to address genetic heterogeneity in schizophrenia and bipolar disorder.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1182, doi. 10.1038/ejhg.2012.67
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- Publication type:
- Article
Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1127, doi. 10.1038/ejhg.2012.50
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- Publication type:
- Article
Can (should) molecular diagnostic labs improve the quality of their services?
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1103, doi. 10.1038/ejhg.2012.126
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- Publication type:
- Article
Black Swans and Bell Curves.
- Published in:
- 2012
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- Publication type:
- Book Review
Community of protein complexes impacts disease association.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1162, doi. 10.1038/ejhg.2012.74
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- Publication type:
- Article