Works matching IS 14345161 AND DT 2007 AND VI 52 AND IP 4
Results: 15
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
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- 2007
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- Publication type:
- Correction Notice
Identification of polymorphisms in human interleukin-27 and their association with asthma in a Korean population.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 355, doi. 10.1007/s10038-007-0123-8
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- Article
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 349, doi. 10.1007/s10038-007-0122-9
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- Article
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 342, doi. 10.1007/s10038-007-0121-x
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- Article
Population history of the Dniester–Carpathians: evidence from Alu markers.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 308, doi. 10.1007/s10038-007-0113-x
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- Article
Glucocorticoid-induced granzyme A expression can be used as a marker of glucocorticoid sensitivity for acute lymphoblastic leukemia therapy.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 328, doi. 10.1007/s10038-007-0119-4
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- Article
The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 362, doi. 10.1007/s10038-007-0124-7
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- Article
Association of a chromosome 1q21 locus in close proximity to a late cornified envelope-like proline-rich 1 ( LELP1) gene with total serum IgE levels.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 378, doi. 10.1007/s10038-007-0118-5
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- Article
Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 297, doi. 10.1007/s10038-007-0109-6
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- Article
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype–genotype correlation.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 370, doi. 10.1007/s10038-007-0108-7
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- Article
Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 374, doi. 10.1007/s10038-007-0117-6
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- Article
Polymorphic Alu insertions and the genetic structure of Iberian Basques.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 317, doi. 10.1007/s10038-007-0114-9
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- Article
Expression and phylogenetic analyses of human endogenous retrovirus HC2 belonging to the HERV-T family in human tissues and cancer cells.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 285, doi. 10.1007/s10038-007-0115-8
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- Article
Assessment of the contribution of the LOC387715 gene polymorphism in a family with exudative age-related macular degeneration and heterozygous CFH variant (Y402H).
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 384, doi. 10.1007/s10038-007-0120-y
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- Article
Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 334, doi. 10.1007/s10038-007-0116-7
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- Article