Structural and biochemical studies on Pompe disease and a “pseudodeficiency of acid α-glucosidase”.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 11, p. 898, doi. 10.1007/s10038-007-0191-9
- By:
- Publication type:
- Article
Works matching IS 14345161 AND DT 2007 AND VI 52 AND IP 11
Results: 10
1
2
Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy: a meta-analysis.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 11, p. 881, doi. 10.1007/s10038-007-0189-3
- By:
- Publication type:
- Article
3
Maternal gene polymorphisms involved in folate metabolism and risk of Down syndrome offspring: a meta-analysis.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 11, p. 943, doi. 10.1007/s10038-007-0202-x
- By:
- Publication type:
- Article
4
De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 11, p. 921, doi. 10.1007/s10038-007-0197-3
- By:
- Publication type:
- Article
5
Suggestive evidence for chromosomal localization of non-coding RNA from imprinted LIT1.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 11, p. 926, doi. 10.1007/s10038-007-0196-4
- By:
- Publication type:
- Article
6
U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 11, p. 891, doi. 10.1007/s10038-007-0192-8
- By:
- Publication type:
- Article
7
Identification of origin of unknown derivative chromosomes by array-based comparative genomic hybridization using pre- and postnatal clinical samples.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 11, p. 934, doi. 10.1007/s10038-007-0199-1
- By:
- Publication type:
- Article
8
Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 11, p. 907, doi. 10.1007/s10038-007-0193-7
- By:
- Publication type:
- Article
9
Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 11, p. 915, doi. 10.1007/s10038-007-0195-5
- By:
- Publication type:
- Article
10
SNPs in disease gene mapping, medicinal drug development and evolution.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 11, p. 871, doi. 10.1007/s10038-007-0200-z
- By:
- Publication type:
- Article