Works matching IS 03406717 AND DT 2001 AND VI 108 AND IP 3
Results: 17
The missense Glu298Asp variant of the endothelial nitric oxide synthase gene is strongly associated with placental abruption.
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- Human Genetics, 2001, v. 108, n. 3, p. 181, doi. 10.1007/s004390000454
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Elite swimmers and the D allele of the ACE I/D polymorphism.
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- Human Genetics, 2001, v. 108, n. 3, p. 230, doi. 10.1007/s004390100466
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CFTR gene mutations – including three novel nucleotide substitutions – and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease.
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- Human Genetics, 2001, v. 108, n. 3, p. 216, doi. 10.1007/s004390100467
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Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes.
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- Human Genetics, 2001, v. 108, n. 3, p. 237, doi. 10.1007/s004390100469
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De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.
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- Human Genetics, 2001, v. 108, n. 3, p. 269, doi. 10.1007/s004390100484
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SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.
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- Human Genetics, 2001, v. 108, n. 3, p. 255, doi. 10.1007/s004390100473
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Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.
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- Human Genetics, 2001, v. 108, n. 3, p. 222, doi. 10.1007/s004390000452
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Cross-sectional study on cytokine polymorphisms, cytokine production after T-cell stimulation and clinical parameters in a random sample of a German population.
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- Human Genetics, 2001, v. 108, n. 3, p. 241, doi. 10.1007/s004390100464
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Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease.
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- Human Genetics, 2001, v. 108, n. 3, p. 194, doi. 10.1007/s004390100463
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Analysis of the CC chemokine receptor 5 (CCR5) delta-32 polymorphism in inflammatory bowel disease.
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- Human Genetics, 2001, v. 108, n. 3, p. 190, doi. 10.1007/s004390100462
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A single nucleotide polymorphism (SNP) in the leptin receptor is associated with BMI, fat mass and leptin levels in postmenopausal Caucasian women.
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- Human Genetics, 2001, v. 108, n. 3, p. 233, doi. 10.1007/s004390100468
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Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes.
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- Human Genetics, 2001, v. 108, n. 3, p. 211, doi. 10.1007/s004390100480
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A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH).
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- Human Genetics, 2001, v. 108, n. 3, p. 199, doi. 10.1007/s004390100459
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Complex segregation analysis of Parkinson's disease in the Finnish population.
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- Human Genetics, 2001, v. 108, n. 3, p. 184, doi. 10.1007/s004390100470
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Increased reproductive success of MHC class II heterozygous males among free-ranging rhesus macaques.
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- Human Genetics, 2001, v. 108, n. 3, p. 249, doi. 10.1007/s004390100485
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A method for sex assignment in mixed samples.
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- Human Genetics, 2001, v. 108, n. 3, p. 267, doi. 10.1007/s004390100478
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Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish origin.
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- Human Genetics, 2001, v. 108, n. 3, p. 205, doi. 10.1007/s004390100474
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