Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 11
Results: 17
Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aa-chain gene.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 891, doi. 10.1038/sj.ejhg.5201207
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- Article
Strategies for the rapid prenatal diagnosis of chromosome aneuploidy.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 907, doi. 10.1038/sj.ejhg.5201224
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- Article
Accurate determination of microsatellite allele frequencies in pooled DNA samples.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 925, doi. 10.1038/sj.ejhg.5201234
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- Article
Modulating effect of the A-278C promoter polymorphism in the cholesterol 7alpha-hydroxylase gene on serum lipid levels in normolipidaemic and hypertriglyceridaemic individuals.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 935, doi. 10.1038/sj.ejhg.5201236
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- Article
Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 942, doi. 10.1038/sj.ejhg.5201237
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- Article
Cox proportional hazards survival regression in haplotype-based association analysis using the Stochastic-EM algorithm.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 971, doi. 10.1038/sj.ejhg.5201238
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- Article
Genome-wide association study identifies ITGB3 as a QTL for whole blood serotonin.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 949, doi. 10.1038/sj.ejhg.5201239
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- Article
Familial correlations and inter-relationships of four asthma-associated quantitative phenotypes in 320 French EGEA families ascertained through asthmatic probands.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 955, doi. 10.1038/sj.ejhg.5201241
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- Article
Molecular diversity at the CYP2D6 locus in the Mediterranean region.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 916, doi. 10.1038/sj.ejhg.5201243
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- Article
Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 975, doi. 10.1038/sj.ejhg.5201251
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- Article
Deep genomics in shallow times: the finished sequence of human chromosomes 13 and 19.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 875, doi. 10.1038/sj.ejhg.5201254
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- Article
Combining the transmission disequilibrium test and case-control methodology using generalized logistic regression.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 964, doi. 10.1038/sj.ejhg.5201255
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- Article
Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 899, doi. 10.1038/sj.ejhg.5201256
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- Article
Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 979, doi. 10.1038/sj.ejhg.5201257
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- Article
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
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- European Journal of Human Genetics, 2004, v. 12, n. 11, p. 879, doi. 10.1038/sj.ejhg.5201260
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- Article
The geography of HFE mutations: molecular diagnosis of haemochromatosis and the globalization of genetic testing.
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- 2004
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- Publication type:
- Letter
The geography of HFE mutations: molecular diagnosis of haemochromatosis and the globalization of genetic testing.
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- 2004
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