Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 8
Results: 19
Molecular profiling of the 'plexinome' in melanoma and pancreatic cancer.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. 1167, doi. 10.1002/humu.21017
- By:
- Publication type:
- Article
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. E813, doi. 10.1002/humu.21057
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- Publication type:
- Article
Gene conversion causing human inherited disease: Evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. 1189, doi. 10.1002/humu.21020
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- Publication type:
- Article
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. 1214, doi. 10.1002/humu.21031
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- Publication type:
- Article
Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the future.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. 1139, doi. 10.1002/humu.21042
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- Publication type:
- Article
A gene-alteration profile of human lung cancer cell lines.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. 1199, doi. 10.1002/humu.21028
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- Publication type:
- Article
Prediction of function changes associated with single-point protein mutations using support vector machines (SVMs).
- Published in:
- 2009
- By:
- Publication type:
- Other
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. 1222, doi. 10.1002/humu.21034
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- Publication type:
- Article
Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. 1175, doi. 10.1002/humu.21016
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- Publication type:
- Article
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. E797, doi. 10.1002/humu.21056
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- Publication type:
- Article
APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. 1207, doi. 10.1002/humu.21027
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- Publication type:
- Article
LRRK2 gene variation and its contribution to Parkinson disease.
- Published in:
- 2009
- By:
- Publication type:
- Other
Predicting the pathogenicity of RPE65 mutations.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. 1183, doi. 10.1002/humu.21033
- By:
- Publication type:
- Article
Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. 1231, doi. 10.1002/humu.21044
- By:
- Publication type:
- Article
Dissecting initiation of gene conversion events.
- Published in:
- 2009
- By:
- Publication type:
- Other
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. E782, doi. 10.1002/humu.21055
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- Publication type:
- Article
Molecular characterization of the new defective P<sub>brescia</sub> alpha1-antitrypsin allele.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. E771, doi. 10.1002/humu.21043
- By:
- Publication type:
- Article
Functional annotations improve the predictive score of human disease-related mutations in proteins.
- Published in:
- 2009
- By:
- Publication type:
- Other
Insights into the importance of miRNA-related polymorphisms to heart disease.
- Published in:
- 2009
- By:
- Publication type:
- Other