Works matching IS 10184813 AND DT 2001 AND VI 9 AND IP 9
Results: 12
X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.
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- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 653, doi. 10.1038/sj.ejhg.5200692
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Mitochondrial DNA characterisation of European isolates: The Maragatos from Spain.
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- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 708, doi. 10.1038/sj.ejhg.5200693
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Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma.
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- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 690, doi. 10.1038/sj.ejhg.5200694
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A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia.
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- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 685, doi. 10.1038/sj.ejhg.5200695
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Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
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- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 677, doi. 10.1038/sj.ejhg.5200696
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Analysis of FMR1 (CGG)<sub>n</sub> alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia.
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- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 724, doi. 10.1038/sj.ejhg.5200697
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Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes.
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- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 659, doi. 10.1038/sj.ejhg.5200698
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Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia.
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- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 672, doi. 10.1038/sj.ejhg.5200699
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Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians.
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- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 701, doi. 10.1038/sj.ejhg.5200703
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Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.
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- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 667, doi. 10.1038/sj.ejhg.5200707
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Y-chromosome SNP haplotypes suggest evidence of gene flow among caste, tribe, and the migrant Siddi populations of Andhra Pradesh, South India.
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- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 695, doi. 10.1038/sj.ejhg.5200708
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The evidence of mtDNA haplogroup F in a European population and its ethnohistoric implications.
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- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 717, doi. 10.1038/sj.ejhg.5200709
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