Works matching IS 03406717 AND DT 2001 AND VI 109 AND IP 2
Results: 16
The Basques according to polymorphic Alu insertions.
- Published in:
- Human Genetics, 2001, v. 109, n. 2, p. 224, doi. 10.1007/s004390100544
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- Article
Combined segregation-linkage analysis of plasma thrombin activatable fibrinolysis inhibitor (TAFI) antigen levels with TAFI gene polymorphisms.
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- Human Genetics, 2001, v. 109, n. 2, p. 191, doi. 10.1007/s004390100558
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- Publication type:
- Article
Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.
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- Human Genetics, 2001, v. 109, n. 2, p. 159, doi. 10.1007/s004390100570
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- Article
Identification and characterization of a tissue-specific silencer element in the first intron of the human acid maltase gene.
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- Human Genetics, 2001, v. 109, n. 2, p. 186, doi. 10.1007/s004390100562
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- Article
Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation.
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- Human Genetics, 2001, v. 109, n. 2, p. 216, doi. 10.1007/s004390100564
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- Article
The polyglutamine motif is highly conserved at the Clock locus in various organisms and is not polymorphic in humans.
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- Human Genetics, 2001, v. 109, n. 2, p. 136, doi. 10.1007/s004390100550
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- Article
Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.
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- Human Genetics, 2001, v. 109, n. 2, p. 210, doi. 10.1007/s004390100552
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- Article
AcroM fluorescent in situ hybridization analyses of marker chromosomes.
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- Human Genetics, 2001, v. 109, n. 2, p. 152, doi. 10.1007/s004390100571
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- Article
A second case of somatic triple mosaicism in the CYBB gene causing chronic granulomatous disease.
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- Human Genetics, 2001, v. 109, n. 2, p. 234, doi. 10.1007/s004390100551
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- Publication type:
- Article
Recombination in the pseudoautosomal region in a 47,XYY male.
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- Human Genetics, 2001, v. 109, n. 2, p. 143, doi. 10.1007/s004390100566
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- Article
Linkage and association to candidate regions in Swedish atopic dermatitis families.
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- Human Genetics, 2001, v. 109, n. 2, p. 129, doi. 10.1007/s004390100556
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- Article
Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases.
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- Human Genetics, 2001, v. 109, n. 2, p. 146, doi. 10.1007/s004390100563
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- Publication type:
- Article
Expression pattern, genomic structure and evaluation of the human SLC30A4 gene as a candidate for acrodermatitis enteropathica.
- Published in:
- Human Genetics, 2001, v. 109, n. 2, p. 178, doi. 10.1007/s004390100539
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- Publication type:
- Article
Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer.
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- 2001
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- Publication type:
- Erratum
Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits.
- Published in:
- Human Genetics, 2001, v. 109, n. 2, p. 198, doi. 10.1007/s004390100557
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- Publication type:
- Article
The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers.
- Published in:
- Human Genetics, 2001, v. 109, n. 2, p. 167, doi. 10.1007/s004390100560
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- Publication type:
- Article