Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 7
Results: 16
The Tunisian population history through the Crigler–Najjar type I syndrome.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 848, doi. 10.1038/sj.ejhg.5201989
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- Article
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 820, doi. 10.1038/ejhg.2008.13
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- Article
Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 786, doi. 10.1038/ejhg.2008.14
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- Article
Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 865, doi. 10.1038/ejhg.2008.15
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- Article
IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk.
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 861, doi. 10.1038/ejhg.2008.16
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- Article
Mapping of a Hirschsprung's disease locus in 3p21.
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 833, doi. 10.1038/ejhg.2008.18
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- Article
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 841, doi. 10.1038/ejhg.2008.20
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- Article
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 812, doi. 10.1038/ejhg.2008.23
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- Article
An approach for cutting large and complex pedigrees for linkage analysis.
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 854, doi. 10.1038/ejhg.2008.24
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- Article
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC.
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 804, doi. 10.1038/ejhg.2008.25
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Establishment of a biobank and pharmacogenetics database of African populations.
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- 2008
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- Publication type:
- Letter
Conservation of 5′-upstream region of the FBN1 gene in primates.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 869, doi. 10.1038/ejhg.2008.51
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- Article
Feedback Control: The role of negative feedback in signal transduction control.
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 769, doi. 10.1038/ejhg.2008.56
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- Article
The human pseudoautosomal regions: a review for genetic epidemiologists.
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 771, doi. 10.1038/ejhg.2008.63
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- Article
Maternal genotype effects can alias case genotype effects in case–control studies.
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- 2008
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- Publication type:
- Letter
Revised spectrum of mutations in sarcoglycanopathies.
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 793, doi. 10.1038/ejhg.2008.9
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- Article