Works matching IS 10184813 AND DT 2003 AND VI 11 AND IP 9
Results: 17
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 700, doi. 10.1038/sj.ejhg.5201004
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- Article
Apolipoprotein(a) isoform-specific changes of lipoprotein(a) after kidney transplantation.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 693, doi. 10.1038/sj.ejhg.5201016
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- Article
Genetic polymorphisms in folate and homocysteine metabolism as risk factors for DNA damage.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 671, doi. 10.1038/sj.ejhg.5201024
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- Article
Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 652, doi. 10.1038/sj.ejhg.5201017
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- Article
Polymorphisms of genes of the cardiac calcineurin pathway and cardiac hypertrophy.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 659, doi. 10.1038/sj.ejhg.5201023
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- Article
Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 723, doi. 10.1038/sj.ejhg.5201032
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- Article
Association between Gly241Arg ICAM-1 gene polymorphism and serum sICAM-1 concentration in the Stanislas cohort.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 679, doi. 10.1038/sj.ejhg.5201033
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- Article
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 639, doi. 10.1038/sj.ejhg.5201025
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- Article
Genealogy and genes: tracing the founding fathers of Tristan da Cunha.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 705, doi. 10.1038/sj.ejhg.5201022
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- Article
Novel spastin mutations and their expression analysis in two Italian families.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 710, doi. 10.1038/sj.ejhg.5201027
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- Article
Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism?
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 665, doi. 10.1038/sj.ejhg.5201026
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- Article
Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 643, doi. 10.1038/sj.ejhg.5201028
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- Article
Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 718, doi. 10.1038/sj.ejhg.5201029
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Comment on “The Impact of genotyping error on haplotype reconstruction and frequency estimation”.
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- 2003
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- Letter
Reply to letter from T Becker and M Knapp.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 638, doi. 10.1038/sj.ejhg.5201031
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- Article
Mutation analysis of the Smad3 gene in human osteoarthritis.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 714, doi. 10.1038/sj.ejhg.5201034
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- Article
Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 687, doi. 10.1038/sj.ejhg.5201035
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- Article