Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 3
Results: 25
Masking selected sequence variation by incorporating mismatches into melting analysis probes.
- Published in:
- Human Mutation, 2006, v. 27, n. 3, p. 269, doi. 10.1002/humu.20290
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- Publication type:
- Article
A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers.
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- Human Mutation, 2006, v. 27, n. 3, p. 242, doi. 10.1002/humu.20283
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- Publication type:
- Article
RNAi-based suppression and replacement of rds-peripherin in retinal organotypic culture.
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- Human Mutation, 2006, v. 27, n. 3, p. 260, doi. 10.1002/humu.20287
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- Article
Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate.
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- Human Mutation, 2006, v. 27, n. 3, p. 294, doi. 10.1002/humu.9411
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- Publication type:
- Article
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
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- Human Mutation, 2006, v. 27, n. 3, p. 290, doi. 10.1002/humu.9404
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- Article
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
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- Human Mutation, 2006, v. 27, n. 3, p. 296, doi. 10.1002/humu.9415
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- Article
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.
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- Human Mutation, 2006, v. 27, n. 3, p. 292, doi. 10.1002/humu.9408
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- Publication type:
- Article
DRD4 gene variant associated with body mass: The National Longitudinal Study of Adolescent Health.
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- Human Mutation, 2006, v. 27, n. 3, p. 236, doi. 10.1002/humu.20282
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- Article
Distribution of human SNPs and its effect on high-throughput genotyping.
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- Human Mutation, 2006, v. 27, n. 3, p. 249, doi. 10.1002/humu.20286
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- Publication type:
- Article
2005 Human Genome Variation Society Scientific Meeting.
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- Human Mutation, 2006, v. 27, n. 3, p. 286, doi. 10.1002/humu.20297
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- Article
A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.
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- Human Mutation, 2006, v. 27, n. 3, p. 293, doi. 10.1002/humu.9410
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- Article
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
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- Human Mutation, 2006, v. 27, n. 3, p. 290, doi. 10.1002/humu.9403
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- Publication type:
- Article
Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH.
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- Human Mutation, 2006, v. 27, n. 3, p. 295, doi. 10.1002/humu.9414
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- Publication type:
- Article
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.
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- Human Mutation, 2006, v. 27, n. 3, p. 292, doi. 10.1002/humu.9407
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- Publication type:
- Article
Photoprotein aequorin as a novel reporter for SNP genotyping by primer extension-application to the variants of mannose-binding lectin gene.
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- Human Mutation, 2006, v. 27, n. 3, p. 279, doi. 10.1002/humu.20300
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- Publication type:
- Article
Mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub> channel subunits Kir6.2 ( KCNJ11) and SUR1 ( ABCC8) in diabetes mellitus and hyperinsulinism.
- Published in:
- 2006
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- Publication type:
- Other
PTCH mutations: distribution and analyses.
- Published in:
- Human Mutation, 2006, v. 27, n. 3, p. 215, doi. 10.1002/humu.20296
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- Publication type:
- Article
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.
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- Human Mutation, 2006, v. 27, n. 3, p. 295, doi. 10.1002/humu.9413
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- Publication type:
- Article
Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing.
- Published in:
- Human Mutation, 2006, v. 27, n. 3, p. 291, doi. 10.1002/humu.9406
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- Publication type:
- Article
Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies.
- Published in:
- 2006
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- Publication type:
- Other
Mutations in EDAR account for one-quarter of non- ED1-related hypohidrotic ectodermal dysplasia.
- Published in:
- Human Mutation, 2006, v. 27, n. 3, p. 255, doi. 10.1002/humu.20295
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- Article
Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 ( NF1) due to intronic sequence exonization.
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- Human Mutation, 2006, v. 27, n. 3, p. 294, doi. 10.1002/humu.9412
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- Publication type:
- Article
Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome.
- Published in:
- Human Mutation, 2006, v. 27, n. 3, p. 291, doi. 10.1002/humu.9405
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- Article
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
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- Human Mutation, 2006, v. 27, n. 3, p. 296, doi. 10.1002/humu.9416
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- Publication type:
- Article
Characterization and functional investigation of single nucleotide polymorphisms (SNPs) in the human TLR5 gene.
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- Human Mutation, 2006, v. 27, n. 3, p. 293, doi. 10.1002/humu.9409
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- Publication type:
- Article