Works matching IS 10184813 AND DT 2007 AND VI 15 AND IP 6
Results: 15
Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 628, doi. 10.1038/sj.ejhg.5201799
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- Publication type:
- Article
Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 646, doi. 10.1038/sj.ejhg.5201801
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- Publication type:
- Article
Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 679, doi. 10.1038/sj.ejhg.5201802
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- Publication type:
- Article
Phenotype selection for detecting variable genes: a survey of cardiovascular quantitative traits and TNF locus polymorphism.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 685, doi. 10.1038/sj.ejhg.5201803
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- Article
Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review.
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- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 619, doi. 10.1038/sj.ejhg.5201806
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- Publication type:
- Article
Does apolipoprotein E determine outcome of infection by varicella zoster virus and by Epstein Barr virus?
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 672, doi. 10.1038/sj.ejhg.5201812
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- Publication type:
- Article
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
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- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 638, doi. 10.1038/sj.ejhg.5201813
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- Publication type:
- Article
The use of grid computing to drive data-intensive genetic research.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 694, doi. 10.1038/sj.ejhg.5201815
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- Article
TNF Polymorphism and Cardiovascular Disease: TNF gene polymorphism and quantitative traits related to cardiovascular disease: getting to the heart of the matter.
- Published in:
- 2007
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- Publication type:
- Editorial
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 664, doi. 10.1038/sj.ejhg.5201817
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- Publication type:
- Article
Meta-analysis of genome-wide linkage studies for multiple sclerosis, using an extended GSMA method.
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- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 703, doi. 10.1038/sj.ejhg.5201818
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- Publication type:
- Article
Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 658, doi. 10.1038/sj.ejhg.5201819
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- Publication type:
- Article
Communicating genetic information in families – a review of guidelines and position papers.
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- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 612, doi. 10.1038/sj.ejhg.5201822
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- Publication type:
- Article
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.
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- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 711, doi. 10.1038/sj.ejhg.5201824
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- Publication type:
- Article
A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p.
- Published in:
- 2007
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- Correction Notice