Works matching IS 14345161 AND DT 2008 AND VI 53 AND IP 5
Results: 13
Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 5, p. 401, doi. 10.1007/s10038-008-0274-2
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- Publication type:
- Article
Association of chemokine CCL5 and systemic malignancies.
- Published in:
- 2008
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- Publication type:
- Letter
Sample-size properties of a case-control association analysis of multistage SNP studies for identifying disease susceptibility genes.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 5, p. 390, doi. 10.1007/s10038-008-0258-2
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- Publication type:
- Article
Prediction of functional nonsynonymous single nucleotide polymorphisms in human G-protein-coupled receptors.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 5, p. 379, doi. 10.1007/s10038-008-0260-8
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- Publication type:
- Article
Association of the MSX2 gene polymorphisms with ankylosing spondylitis in Japanese.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 5, p. 419, doi. 10.1007/s10038-008-0265-3
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- Publication type:
- Article
Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase ( PAH) gene.
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- Journal of Human Genetics, 2008, v. 53, n. 5, p. 407, doi. 10.1007/s10038-008-0264-4
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- Publication type:
- Article
A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 5, p. 475, doi. 10.1007/s10038-008-0257-3
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- Publication type:
- Article
Statistical analysis of the associations between polymorphisms within aldehyde dehydrogenase 2 ( ALDH2), and quantitative and qualitative traits extracted from a large-scale database of Japanese single-nucleotide polymorphisms (SNPs).
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 5, p. 425, doi. 10.1007/s10038-008-0266-2
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- Publication type:
- Article
Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis.
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- Journal of Human Genetics, 2008, v. 53, n. 5, p. 454, doi. 10.1007/s10038-008-0269-z
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- Publication type:
- Article
Introduction of a CD40L genomic fragment via a human artificial chromosome vector permits cell-type-specific gene expression and induces immunoglobulin secretion.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 5, p. 447, doi. 10.1007/s10038-008-0268-0
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- Publication type:
- Article
Myeloperoxidase gene sequence variations are associated with low-density-lipoprotein characteristics.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 5, p. 439, doi. 10.1007/s10038-008-0267-1
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- Publication type:
- Article
Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 5, p. 460, doi. 10.1007/s10038-008-0271-5
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- Publication type:
- Article
Structural study on mutant α- l-iduronidases: insight into mucopolysaccharidosis type I.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 5, p. 467, doi. 10.1007/s10038-008-0272-4
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- Publication type:
- Article