Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 10
Results: 17
Clinical utility gene card for: Centronuclear and myotubular myopathies.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1, doi. 10.1038/ejhg.2012.91
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- Article
Meta-analyses of genome-wide linkage scans of anxiety-related phenotypes.
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- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1078, doi. 10.1038/ejhg.2012.47
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- Publication type:
- Article
The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy.
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- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1071, doi. 10.1038/ejhg.2012.48
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- Article
Lactose malabsorption is a risk factor for decreased bone mineral density in pancreatic insufficient cystic fibrosis patients.
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- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1092, doi. 10.1038/ejhg.2012.52
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- Article
Afghanistan from a Y-chromosome perspective.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1063, doi. 10.1038/ejhg.2012.59
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- Article
Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1018, doi. 10.1038/ejhg.2012.53
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- Publication type:
- Article
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1096, doi. 10.1038/ejhg.2012.51
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- Publication type:
- Article
PDGFRa mutations in humans with isolated cleft palate.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1058, doi. 10.1038/ejhg.2012.55
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- Publication type:
- Article
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1024, doi. 10.1038/ejhg.2012.57
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- Article
Aniridia.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1011, doi. 10.1038/ejhg.2012.100
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- Article
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
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- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1032, doi. 10.1038/ejhg.2012.60
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- Article
De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1037, doi. 10.1038/ejhg.2012.49
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- Publication type:
- Article
Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1051, doi. 10.1038/ejhg.2012.138
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- Publication type:
- Article
Clinical utility gene card for: Glanzmann thrombasthenia.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1102, doi. 10.1038/ejhg.2012.178
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- Publication type:
- Article
Clinical utility gene card for: Glanzmann thrombasthenia.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1, doi. 10.1038/ejhg.2012.151
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- Publication type:
- Article
Sampling strategies for rare variant tests in case-control studies.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1085, doi. 10.1038/ejhg.2012.58
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- Publication type:
- Article
DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1044, doi. 10.1038/ejhg.2012.41
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- Article