Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 1
Results: 19
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 59, doi. 10.1038/sj.ejhg.5201276
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- Publication type:
- Article
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 26, doi. 10.1038/sj.ejhg.5201250
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- Publication type:
- Article
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 124, doi. 10.1038/sj.ejhg.5201270
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- Publication type:
- Article
Family-based association study of DYX1C1 variants in autism.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 127, doi. 10.1038/sj.ejhg.5201272
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- Publication type:
- Article
Overdispersion of allele frequency differences between populations: implications for meta-analyses of genotypic disease associations.
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- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 79, doi. 10.1038/sj.ejhg.5201275
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- Publication type:
- Article
Situs ambiguus in a female fetus with balanced (X;21) translocation-evidence for functional nullisomy of the ZIC3 gene?
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 34, doi. 10.1038/sj.ejhg.5201213
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- Publication type:
- Article
Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.
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- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 6, doi. 10.1038/sj.ejhg.5201279
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- Publication type:
- Article
Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 52, doi. 10.1038/sj.ejhg.5201281
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- Publication type:
- Article
Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population?
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- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 86, doi. 10.1038/sj.ejhg.5201282
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- Publication type:
- Article
Fc?receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis.
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- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 96, doi. 10.1038/sj.ejhg.5201285
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- Publication type:
- Article
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 118, doi. 10.1038/sj.ejhg.5201286
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- Publication type:
- Article
Genotype-based screening for hereditary haemochromatosis. I: Technical performance, costs and clinical relevance of a German pilot study.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 69, doi. 10.1038/sj.ejhg.5201287
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- Publication type:
- Article
Interaction between obesity-susceptibility loci in chromosome regions 2p25-p24 and 13q13-q21.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 102, doi. 10.1038/sj.ejhg.5201292
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- Publication type:
- Article
Subcellular distribution of HP1 proteins is altered in ICF syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 41, doi. 10.1038/sj.ejhg.5201293
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- Publication type:
- Article
Biological variations, genetic polymorphisms and familial resemblance of TNF-aand IL-6 concentrations: STANISLAS cohort.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 109, doi. 10.1038/sj.ejhg.5201294
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- Publication type:
- Article
Duchenne Muscular Dystrophy: Stalled at the junction?
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 4, doi. 10.1038/sj.ejhg.5201304
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- Publication type:
- Article
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 121, doi. 10.1038/sj.ejhg.5201312
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- Publication type:
- Article
Screening for FXTAS.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 2, doi. 10.1038/sj.ejhg.5201318
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- Publication type:
- Article
New year, new faces and new copy.
- Published in:
- 2005
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- Publication type:
- Editorial