Found: 16
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Contribution of Telomere Maintenance-Associated Genes to Telomere Length.
- Published in:
- 2010
- By:
- Publication type:
- Other
Understanding the Detailed Structural Effects of Missense Mutations.
- Published in:
- 2010
- By:
- Publication type:
- Other
Analysis of mutations causing biotinidase deficiency.
- Published in:
- 2010
- By:
- Publication type:
- Other
Mutations in the human laminin β2 ( LAMB2) gene and the associated phenotypic spectrum.
- Published in:
- 2010
- By:
- Publication type:
- Other
A mutation database for amyotrophic lateral sclerosis.
- Published in:
- 2010
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- Publication type:
- Other
UMD- CFTR: A database dedicated to CF and CFTR-related disorders.
- Published in:
- 2010
- By:
- Publication type:
- Other
MUT-TP53 2.0: a novel versatile matrix for statistical analysis of TP53 mutations in human cancer.
- Published in:
- 2010
- By:
- Publication type:
- Other
Novel tools for extraction and validation of disease-related mutations applied to fabry disease.
- Published in:
- 2010
- By:
- Publication type:
- Other
Functional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type.
- Published in:
- Human Mutation, 2010, v. 31, n. 9, p. 1033, doi. 10.1002/humu.21307
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- Publication type:
- Article
Computational analysis of missense mutations causing Snyder-Robinson syndrome.
- Published in:
- Human Mutation, 2010, v. 31, n. 9, p. 1043, doi. 10.1002/humu.21310
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- Publication type:
- Article
The association of telomere length and genetic variation in telomere biology genes.
- Published in:
- Human Mutation, 2010, v. 31, n. 9, p. 1050, doi. 10.1002/humu.21314
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- Publication type:
- Article
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
- Published in:
- Human Mutation, 2010, v. 31, n. 9, p. 1059, doi. 10.1002/humu.21315
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- Publication type:
- Article
Genetic modulation of TLR8 response following bacterial phagocytosis.
- Published in:
- Human Mutation, 2010, v. 31, n. 9, p. 1069, doi. 10.1002/humu.21321
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- Publication type:
- Article
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
- Published in:
- Human Mutation, 2010, v. 31, n. 9, p. 1080, doi. 10.1002/humu.21322
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- Publication type:
- Article
Transcriptional and translational effects of intronic CAPN3 gene mutations.
- Published in:
- Human Mutation, 2010, v. 31, n. 9, p. E1658, doi. 10.1002/humu.21320
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- Publication type:
- Article
Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.
- Published in:
- Human Mutation, 2010, v. 31, n. 9, p. E1670, doi. 10.1002/humu.21325
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- Publication type:
- Article