Works matching IS 14345161 AND DT 2007 AND VI 52 AND IP 11
Results: 10
Structural and biochemical studies on Pompe disease and a “pseudodeficiency of acid α-glucosidase”.
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- Journal of Human Genetics, 2007, v. 52, n. 11, p. 898, doi. 10.1007/s10038-007-0191-9
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Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy: a meta-analysis.
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- Journal of Human Genetics, 2007, v. 52, n. 11, p. 881, doi. 10.1007/s10038-007-0189-3
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Maternal gene polymorphisms involved in folate metabolism and risk of Down syndrome offspring: a meta-analysis.
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- Journal of Human Genetics, 2007, v. 52, n. 11, p. 943, doi. 10.1007/s10038-007-0202-x
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De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis.
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- Journal of Human Genetics, 2007, v. 52, n. 11, p. 921, doi. 10.1007/s10038-007-0197-3
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Suggestive evidence for chromosomal localization of non-coding RNA from imprinted LIT1.
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- Journal of Human Genetics, 2007, v. 52, n. 11, p. 926, doi. 10.1007/s10038-007-0196-4
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U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites.
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- Journal of Human Genetics, 2007, v. 52, n. 11, p. 891, doi. 10.1007/s10038-007-0192-8
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Identification of origin of unknown derivative chromosomes by array-based comparative genomic hybridization using pre- and postnatal clinical samples.
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- Journal of Human Genetics, 2007, v. 52, n. 11, p. 934, doi. 10.1007/s10038-007-0199-1
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Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity.
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- Journal of Human Genetics, 2007, v. 52, n. 11, p. 907, doi. 10.1007/s10038-007-0193-7
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Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia.
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- Journal of Human Genetics, 2007, v. 52, n. 11, p. 915, doi. 10.1007/s10038-007-0195-5
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SNPs in disease gene mapping, medicinal drug development and evolution.
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- Journal of Human Genetics, 2007, v. 52, n. 11, p. 871, doi. 10.1007/s10038-007-0200-z
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- Article