Found: 20
Select item for more details and to access through your institution.
Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. E1, doi. 10.1002/humu.20737
- By:
- Publication type:
- Article
Faster online publication and indexing of 'Mutation in Brief' articles via Early View.
- Published in:
- 2008
- Publication type:
- Other
Bottlenecks in molecular testing for rare genetic diseases.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. 772, doi. 10.1002/humu.20756
- By:
- Publication type:
- Article
Genetic polymorphisms for the study of multifactorial stroke.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. 776, doi. 10.1002/humu.20666
- By:
- Publication type:
- Article
Mutations in the chromatin-associated protein ATRX.
- Published in:
- 2008
- By:
- Publication type:
- Other
The infevers autoinflammatory mutation online registry: update with new genes and functions.
- Published in:
- 2008
- By:
- Publication type:
- Other
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. 809, doi. 10.1002/humu.20704
- By:
- Publication type:
- Article
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene ( OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. 823, doi. 10.1002/humu.20708
- By:
- Publication type:
- Article
Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. 832, doi. 10.1002/humu.20713
- By:
- Publication type:
- Article
Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. 841, doi. 10.1002/humu.20736
- By:
- Publication type:
- Article
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. 852, doi. 10.1002/humu.20735
- By:
- Publication type:
- Article
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. 861, doi. 10.1002/humu.20740
- By:
- Publication type:
- Article
Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. 869, doi. 10.1002/humu.20747
- By:
- Publication type:
- Article
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. 879, doi. 10.1002/humu.20749
- By:
- Publication type:
- Article
Mutations, structural variations, and genome-wide resequencing: where to from here in our understanding of disease and evolution?
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. 886, doi. 10.1002/humu.20781
- By:
- Publication type:
- Article
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. E13, doi. 10.1002/humu.20745
- By:
- Publication type:
- Article
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. E27, doi. 10.1002/humu.20753
- By:
- Publication type:
- Article
Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. E37, doi. 10.1002/humu.20761
- By:
- Publication type:
- Article
Reduced half-life of holocarboxylase synthetase from patients with severe Multiple Carboxylase Deficiency.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. E47, doi. 10.1002/humu.20766
- By:
- Publication type:
- Article
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. E58, doi. 10.1002/humu.20776
- By:
- Publication type:
- Article