Found: 23
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Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1093, doi. 10.1002/humu.21011
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- Article
Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
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- Human Mutation, 2009, v. 30, n. 7, p. E716, doi. 10.1002/humu.21036
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- Article
Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1048, doi. 10.1002/humu.20957
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- Publication type:
- Article
BBS7 and TTC8 ( BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
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- Human Mutation, 2009, v. 30, n. 7, p. E737, doi. 10.1002/humu.21040
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- Article
A rescuable folding defective Na<sub>v</sub>1.1 ( SCN1A) sodium channel mutant causes GEFS+: Common mechanism in Na<sub>v</sub>1.1 related epilepsies?
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. E747, doi. 10.1002/humu.21041
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- Article
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1072, doi. 10.1002/humu.21001
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- Publication type:
- Article
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1104, doi. 10.1002/humu.21012
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- Publication type:
- Article
Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene ( NTRK3) as susceptibility factors for anxiety disorders.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1062, doi. 10.1002/humu.21005
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- Article
Genetic heterogeneity and cystic fibrosis.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. v, doi. 10.1002/humu.21062
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- Article
BAK1 gene variation and abdominal aortic aneurysms.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1043, doi. 10.1002/humu.21046
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- Publication type:
- Article
Genomic variation in a global village: Report of the 10th annual Human Genome Variation Meeting 2008.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1134, doi. 10.1002/humu.21008
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- Article
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1082, doi. 10.1002/humu.21015
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- Article
Novel mutations in VANGL1 in neural tube defects.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. E706, doi. 10.1002/humu.21026
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- Publication type:
- Article
Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.
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- Human Mutation, 2009, v. 30, n. 7, p. E728, doi. 10.1002/humu.21037
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- Publication type:
- Article
Identification and characterization of mutations in FANCL gene: A second case of Fanconi anemia belonging to FA-L complementation group.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. E761, doi. 10.1002/humu.21032
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- Publication type:
- Article
Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1054, doi. 10.1002/humu.21007
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- Publication type:
- Article
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. E692, doi. 10.1002/humu.21025
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- Publication type:
- Article
cblC: Advances in defining the MMACHC mutation spectrum.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. v, doi. 10.1002/humu.21061
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- Publication type:
- Article
Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation.
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- Human Mutation, 2009, v. 30, n. 7, p. 1123, doi. 10.1002/humu.21029
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- Article
The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. E682, doi. 10.1002/humu.21002
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- Publication type:
- Article
Update of cylindromatosis gene ( CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.
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- 2009
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- Publication type:
- Other
SCA-LSVD: A repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias.
- Published in:
- 2009
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- Publication type:
- Other
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. 1117, doi. 10.1002/humu.21018
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- Publication type:
- Article