Works matching IS 10184813 AND DT 2002 AND VI 10 AND IP 12
Results: 19
The importance of plasma apolipoprotein E concentration in addition to its common polymorphism on inter-individual variation in lipid levels: results from Apo Europe.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 841, doi. 10.1038/sj.ejhg.5200864
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Is DFNA5 a susceptibility gene for age-related hearing impairment?
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 883, doi. 10.1038/sj.ejhg.5200878
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Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 819, doi. 10.1038/sj.ejhg.5200883
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Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 865, doi. 10.1038/sj.ejhg.5200884
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BRCA2 founder mutation in Slovenian breast cancer families.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 879, doi. 10.1038/sj.ejhg.5200886
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Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG).
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 813, doi. 10.1038/sj.ejhg.5200887
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Clinical variability in calpainopathy: What makes the difference?
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 825, doi. 10.1038/sj.ejhg.5200888
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Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 790, doi. 10.1038/sj.ejhg.5200889
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Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 857, doi. 10.1038/sj.ejhg.5200896
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New BAGE (B melanoma antigen) genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 have a cancer/testis expression profile.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 833, doi. 10.1038/sj.ejhg.5200891
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Family-based association tests for quantitative traits using pooled DNA.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 870, doi. 10.1038/sj.ejhg.5200893
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Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 851, doi. 10.1038/sj.ejhg.5200894
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Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 801, doi. 10.1038/sj.ejhg.5200895
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Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 807, doi. 10.1038/sj.ejhg.5200890
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The significance of paired MEFV mutations in individuals without symptoms of familial Mediterranean fever.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 786, doi. 10.1038/sj.ejhg.5200900
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De novo mutations in familial adenomatous polyposis (FAP).
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 887, doi. 10.1038/sj.ejhg.5200904
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Author index to volume 10.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 889, doi. 10.1038/sj.ejhg.5200922
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- Article
Keyword index to volume 10.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 894, doi. 10.1038/sj.ejhg.5200923
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- Article
European-wide opposition against the breast cancer gene patents.
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- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 783, doi. 10.1038/sj.ejhg.5200924
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