Found: 15
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The UK National Cancer Research Institute (NCRI) Informatics Initiative: promoting partnership in cancer research.
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1151, doi. 10.1002/humu.20584
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- Publication type:
- Article
Chasing genes for mood disorders and schizophrenia in genetically isolated populations.
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1156, doi. 10.1002/humu.20582
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- Publication type:
- Article
Sequence variation database for the Wilson disease copper transporter, ATP7B.
- Published in:
- 2007
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- Publication type:
- Other
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1178, doi. 10.1002/humu.20608
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- Publication type:
- Article
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1183, doi. 10.1002/humu.20611
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- Publication type:
- Article
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly.
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1189, doi. 10.1002/humu.20594
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- Publication type:
- Article
Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication.
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1198, doi. 10.1002/humu.20591
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- Publication type:
- Article
Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1207, doi. 10.1002/humu.20599
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- Publication type:
- Article
Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes.
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1216, doi. 10.1002/humu.20600
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- Publication type:
- Article
Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio.
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1225, doi. 10.1002/humu.20583
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- Publication type:
- Article
Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1236, doi. 10.1002/humu.20592
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- Publication type:
- Article
Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association?
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1241, doi. 10.1002/humu.20587
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- Publication type:
- Article
Association of SSH1 mutations with disseminated superficial actinic porokeratosis in Chinese pedigrees (response to Frank et al.).
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1243, doi. 10.1002/humu.20585
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- Publication type:
- Article
Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes.
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1245, doi. 10.1002/humu.9512
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- Publication type:
- Article
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1245, doi. 10.1002/humu.9513
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- Publication type:
- Article