Works matching IS 03406717 AND DT 2005 AND VI 118 AND IP 2
Results: 19
Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement?
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 207, doi. 10.1007/s00439-005-0008-x
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- Publication type:
- Article
A genetic and cultural odyssey. The life and work of L. Luca Cavalli-Sforza (2005). By Linda Stone, Columbia University Press, 248 pages, 40,50 Euro, ISBN 0-231-13396-0.
- Published in:
- 2005
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- Publication type:
- Book Review
Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 185, doi. 10.1007/s00439-005-0027-7
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- Publication type:
- Article
The position of premature termination codons in the hepatocyte nuclear factor −1 beta gene determines susceptibility to nonsense-mediated decay.
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- Human Genetics, 2005, v. 118, n. 2, p. 214, doi. 10.1007/s00439-005-0023-y
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- Publication type:
- Article
DNA Methylation and Replication: Implications for the “Deletion Hotspot” Region of FMR1.
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- Human Genetics, 2005, v. 118, n. 2, p. 301, doi. 10.1007/s00439-005-0037-5
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- Publication type:
- Article
Familial aggregation in lone atrial fibrillation.
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 179, doi. 10.1007/s00439-005-0034-8
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- Publication type:
- Article
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 261, doi. 10.1007/s00439-005-0026-8
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- Publication type:
- Article
Independent methods for evolutionary genetic dating provide insights into Y-chromosomal STR mutation rates confirming data from direct father–son transmissions.
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 153, doi. 10.1007/s00439-005-0028-6
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- Publication type:
- Article
Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns.
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- Human Genetics, 2005, v. 118, n. 2, p. 245, doi. 10.1007/s00439-005-0046-4
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- Publication type:
- Article
Genetic prion disease: the EUROCJD experience.
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- Human Genetics, 2005, v. 118, n. 2, p. 166, doi. 10.1007/s00439-005-0020-1
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- Publication type:
- Article
Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis.
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- Human Genetics, 2005, v. 118, n. 2, p. 225, doi. 10.1007/s00439-005-0044-6
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- Publication type:
- Article
Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis.
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 235, doi. 10.1007/s00439-005-0035-7
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- Publication type:
- Article
IL-10 promoter single nucleotide polymorphisms are significantly associated with resistance to leprosy.
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 295, doi. 10.1007/s00439-005-0042-8
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- Publication type:
- Article
Genetic variability in a genomic region with long-range linkage disequilibrium reveals traces of a bottleneck in the history of the European population.
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- Human Genetics, 2005, v. 118, n. 2, p. 276, doi. 10.1007/s00439-005-0056-2
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- Publication type:
- Article
Interaction between inflammation-related gene polymorphisms and cigarette smoking on the risk of myocardial infarction in the Physician’s Health Study.
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- Human Genetics, 2005, v. 118, n. 2, p. 287, doi. 10.1007/s00439-005-0052-6
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- Publication type:
- Article
Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain.
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- Human Genetics, 2005, v. 118, n. 2, p. 255, doi. 10.1007/s00439-005-0043-7
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- Publication type:
- Article
Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a ∼0.5-Mb submicroscopic deletion in a patient with mild mental retardation.
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- Human Genetics, 2005, v. 118, n. 2, p. 267, doi. 10.1007/s00439-005-0021-0
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- Publication type:
- Article
A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 175, doi. 10.1007/s00439-005-0058-0
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- Publication type:
- Article
A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region.
- Published in:
- 2005
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- Publication type:
- Correction Notice