Works matching IS 10184813 AND DT 2001 AND VI 9 AND IP 11
Results: 12
Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 829, doi. 10.1038/sj.ejhg.5200716
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- Article
LDL receptor-GFP fusion proteins: new tools for the characterisation of disease-causing mutations in the LDL receptor gene.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 815, doi. 10.1038/sj.ejhg.5200718
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- Article
Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr<sub>3492</sub>Ile in the apolipoprotein B gene.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 836, doi. 10.1038/sj.ejhg.5200720
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High serum endostatin levels in Down syndrome: implications for improved treatment and prevention of solid tumours.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 811, doi. 10.1038/sj.ejhg.5200721
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Evidence of a normal mean telomere fragment length in patients with Ullrich-Turner syndrome.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 877, doi. 10.1038/sj.ejhg.5200722
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Comparative study of the two more frequent HFE mutations (C282Y and H63D): significant different allelic frequencies between the North and South of Portugal.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 843, doi. 10.1038/sj.ejhg.5200723
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- Article
Effect of misspecification of gene frequency on the two-point LOD score.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 855, doi. 10.1038/sj.ejhg.5200724
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Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 849, doi. 10.1038/sj.ejhg.5200725
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ATB<sup>0</sup>/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 860, doi. 10.1038/sj.ejhg.5200726
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Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 823, doi. 10.1038/sj.ejhg.5200728
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A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 873, doi. 10.1038/sj.ejhg.5200729
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Indication of linkage and genetic heterogeneity of asthma according to age at onset on chromosome 7q in 107 French EGEA families.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 867, doi. 10.1038/sj.ejhg.5200732
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- Article