Works matching IS 10184813 AND DT 2006 AND VI 14 AND IP 7
Results: 17
Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 838, doi. 10.1038/sj.ejhg.5201615
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- Publication type:
- Article
Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 831, doi. 10.1038/sj.ejhg.5201617
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- Publication type:
- Article
Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 816, doi. 10.1038/sj.ejhg.5201618
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- Publication type:
- Article
Sequence variations in the 5′ upstream regions of the FBN1 gene associated with Marfan syndrome.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 876, doi. 10.1038/sj.ejhg.5201620
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- Publication type:
- Article
Reply to Professor Haig.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Congenital bilateral absence of the vas deferens and recombination at CFTR.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 846, doi. 10.1038/sj.ejhg.5201623
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- Publication type:
- Article
Evolutionary Genetics: Is brain evolution still continuing in modern humans?
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 799, doi. 10.1038/sj.ejhg.5201624
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- Publication type:
- Article
Scientific rationality, uncertainty and the governance of human genetics: an interview study with researchers at deCODE genetics.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 802, doi. 10.1038/sj.ejhg.5201626
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- Publication type:
- Article
Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 853, doi. 10.1038/sj.ejhg.5201628
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- Publication type:
- Article
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 824, doi. 10.1038/sj.ejhg.5201629
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- Publication type:
- Article
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 880, doi. 10.1038/sj.ejhg.5201630
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- Publication type:
- Article
Localization of candidate regions for a novel gene for Kartagener syndrome.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 809, doi. 10.1038/sj.ejhg.5201631
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- Publication type:
- Article
The influence of the alpha-adducin G460W polymorphism and angiotensinogen M235T polymorphism on antihypertensive medication and blood pressure.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 860, doi. 10.1038/sj.ejhg.5201632
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- Publication type:
- Article
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 884, doi. 10.1038/sj.ejhg.5201633
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- Publication type:
- Article
Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 867, doi. 10.1038/sj.ejhg.5201634
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- Publication type:
- Article
Handy Book on Cancer Genetics Risk Assessment.
- Published in:
- 2006
- By:
- Publication type:
- Book Review