Found: 18
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CoagMDB: a database analysis of missense mutations within four conserved domains in five vitamin K-dependent coagulation serine proteases using a text-mining tool.
- Published in:
- 2008
- By:
- Publication type:
- Other
NPC-db, a Niemann-Pick type C disease gene variation database.
- Published in:
- 2008
- By:
- Publication type:
- Other
The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.
- Published in:
- 2008
- By:
- Publication type:
- Other
Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase.
- Published in:
- 2008
- By:
- Publication type:
- Other
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 367, doi. 10.1002/humu.20635
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- Publication type:
- Article
Platelet receptor P2RY12 haplotypes predict restenosis after percutaneous coronary interventions.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 375, doi. 10.1002/humu.20641
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- Publication type:
- Article
Polymorphisms of LIG4 and XRCC4 involved in the NHEJ pathway interact to modify risk of glioma.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 381, doi. 10.1002/humu.20645
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- Publication type:
- Article
Somatic FGF9 mutations in colorectal and endometrial carcinomas associated with membranous β-catenin.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 390, doi. 10.1002/humu.20653
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- Publication type:
- Article
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 398, doi. 10.1002/humu.20659
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- Publication type:
- Article
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 409, doi. 10.1002/humu.20661
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- Publication type:
- Article
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 418, doi. 10.1002/humu.20669
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- Publication type:
- Article
Increased forensic efficiency of DNA fingerprints through simultaneous resolution of length and nucleotide variability by high-performance mass spectrometry.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 427, doi. 10.1002/humu.20627
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- Publication type:
- Article
Detailed analysis of 22q11.2 with a high density MLPA probe set.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 433, doi. 10.1002/humu.20640
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- Publication type:
- Article
Rapid identification of somatic mutations in colorectal and breast cancer tissues using mismatch repair detection (MRD).
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 441, doi. 10.1002/humu.20672
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- Publication type:
- Article
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 451, doi. 10.1002/humu.9524
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- Publication type:
- Article
A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 451, doi. 10.1002/humu.9525
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- Publication type:
- Article
Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 452, doi. 10.1002/humu.9526
- By:
- Publication type:
- Article
Activating NOTCH3 mutation in a patient with small-vessel-disease of the Brain.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 452, doi. 10.1002/humu.9527
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- Publication type:
- Article