Found: 20
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Mutations in RYR1 in malignant hyperthermia and central core disease.
- Published in:
- Human Mutation, 2006, v. 27, n. 10, p. 977, doi. 10.1002/humu.20356
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- Article
Common variations in the IL4R gene affect splicing and influence natural expression of the soluble isoform.
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- Human Mutation, 2006, v. 27, n. 10, p. 990, doi. 10.1002/humu.20364
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- Article
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
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- Human Mutation, 2006, v. 27, n. 10, p. 999, doi. 10.1002/humu.20374
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- Article
KCNQ4: a gene for age-related hearing impairment?
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- Human Mutation, 2006, v. 27, n. 10, p. 1007, doi. 10.1002/humu.20375
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- Article
Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onset Parkinson disease.
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- Human Mutation, 2006, v. 27, n. 10, p. 1017, doi. 10.1002/humu.20382
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- Article
The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon.
- Published in:
- Human Mutation, 2006, v. 27, n. 10, p. 1024, doi. 10.1002/humu.20384
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- Article
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.
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- Human Mutation, 2006, v. 27, n. 10, p. 1030, doi. 10.1002/humu.20389
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- Article
Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families.
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- Human Mutation, 2006, v. 27, n. 10, p. 1041, doi. 10.1002/humu.20383
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- Article
Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements.
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- Human Mutation, 2006, v. 27, n. 10, p. 1047, doi. 10.1002/humu.20386
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- Article
Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients.
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- Human Mutation, 2006, v. 27, n. 10, p. 1057, doi. 10.1002/humu.20391
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- Article
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
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- Human Mutation, 2006, v. 27, n. 10, p. 1060, doi. 10.1002/humu.9451
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- Article
Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers.
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- Human Mutation, 2006, v. 27, n. 10, p. 1060, doi. 10.1002/humu.9452
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- Article
Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients.
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- Human Mutation, 2006, v. 27, n. 10, p. 1061, doi. 10.1002/humu.9455
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- Article
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.
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- Human Mutation, 2006, v. 27, n. 10, p. 1061, doi. 10.1002/humu.9454
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- Article
A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.
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- Human Mutation, 2006, v. 27, n. 10, p. 1061, doi. 10.1002/humu.9453
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- Article
PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.
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- Human Mutation, 2006, v. 27, n. 10, p. 1062, doi. 10.1002/humu.9456
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- Article
Unique substitution of CHEK2 and TP53 mutations implicated in primary prostate tumors and cancer cell lines.
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- Human Mutation, 2006, v. 27, n. 10, p. 1062, doi. 10.1002/humu.9457
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- Article
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.
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- Human Mutation, 2006, v. 27, n. 10, p. 1063, doi. 10.1002/humu.9458
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- Article
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.
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- Human Mutation, 2006, v. 27, n. 10, p. 1063, doi. 10.1002/humu.9459
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- Article
Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.
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- Human Mutation, 2006, v. 27, n. 10, p. 1064, doi. 10.1002/humu.9460
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- Article