Found: 22
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Myocilin allele-specific glaucoma phenotype database.
- Published in:
- 2008
- By:
- Publication type:
- Other
An XML-based interchange format for genotype-phenotype data.
- Published in:
- 2008
- By:
- Publication type:
- Other
Syndromic true hermaphroditism due to an R-spondin1 ( RSPO1) homozygous mutation.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 220, doi. 10.1002/humu.20665
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- Publication type:
- Article
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 227, doi. 10.1002/humu.20679
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- Publication type:
- Article
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 232, doi. 10.1002/humu.20616
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- Publication type:
- Article
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 240, doi. 10.1002/humu.20633
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- Publication type:
- Article
Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 248, doi. 10.1002/humu.20639
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- Publication type:
- Article
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 258, doi. 10.1002/humu.20642
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- Publication type:
- Article
A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 267, doi. 10.1002/humu.20647
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- Publication type:
- Article
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 277, doi. 10.1002/humu.20649
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- Publication type:
- Article
PIK3CA cancer mutations display gender and tissue specificity patterns.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 284, doi. 10.1002/humu.20648
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- Publication type:
- Article
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 289, doi. 10.1002/humu.20656
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- Publication type:
- Article
RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 299, doi. 10.1002/humu.20657
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- Publication type:
- Article
Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 306, doi. 10.1002/humu.20622
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- Publication type:
- Article
Genomewide SNP assay reveals mutations underlying Parkinson disease.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 315, doi. 10.1002/humu.20626
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- Publication type:
- Article
Allelotyping by massively parallel pyrosequencing of SNP-carrying trinucleotide threads.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 323, doi. 10.1002/humu.20655
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- Publication type:
- Article
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 330, doi. 10.1002/humu.9519
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- Publication type:
- Article
Novel mutations in exon 2 of MATN3 affect residues within the α-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 330, doi. 10.1002/humu.9518
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- Publication type:
- Article
Myoclonus-dystonia: significance of large SGCE deletions.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 331, doi. 10.1002/humu.9521
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- Publication type:
- Article
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 331, doi. 10.1002/humu.9520
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- Publication type:
- Article
The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 332, doi. 10.1002/humu.9523
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- Publication type:
- Article
A 12-bp deletion in the 5'-flanking region of the SERPINH1 gene affects promoter activity and protects against preterm premature rupture of membranes in African Americans.
- Published in:
- Human Mutation, 2008, v. 29, n. 2, p. 332, doi. 10.1002/humu.9522
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- Publication type:
- Article