Works matching IS 10597794 AND DT 2006 AND VI 27 AND IP 7
Results: 25
Multiple displacement amplification to create a long-lasting source of DNA for genetic studies.
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- Human Mutation, 2006, v. 27, n. 7, p. 603, doi. 10.1002/humu.20341
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TGFBI gene mutations in corneal dystrophies.
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- Human Mutation, 2006, v. 27, n. 7, p. 615, doi. 10.1002/humu.20334
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Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.
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- Human Mutation, 2006, v. 27, n. 7, p. 676, doi. 10.1002/humu.20345
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A new large CFTR rearrangement illustrates the importance of searching for complex alleles.
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- Human Mutation, 2006, v. 27, n. 7, p. 716, doi. 10.1002/humu.9431
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Werner syndrome and mutations of the WRN and LMNA genes in France.
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- Human Mutation, 2006, v. 27, n. 7, p. 718, doi. 10.1002/humu.9435
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Mutational spectrum of maple syrup urine disease in Spain.
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- Human Mutation, 2006, v. 27, n. 7, p. 715, doi. 10.1002/humu.9428
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A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
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- Human Mutation, 2006, v. 27, n. 7, p. 654, doi. 10.1002/humu.20340
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A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene ( MCEE) results in mild methylmalonic aciduria.
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- Human Mutation, 2006, v. 27, n. 7, p. 640, doi. 10.1002/humu.20373
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Mutations in two regions of FLNB result in atelosteogenesis I and III.
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- Human Mutation, 2006, v. 27, n. 7, p. 705, doi. 10.1002/humu.20348
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Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
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- Human Mutation, 2006, v. 27, n. 7, p. 716, doi. 10.1002/humu.9430
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McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
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- Human Mutation, 2006, v. 27, n. 7, p. 718, doi. 10.1002/humu.9434
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In vitro analysis of genomic instability triggered by BRCA1 missense mutations.
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- Human Mutation, 2006, v. 27, n. 7, p. 715, doi. 10.1002/humu.9427
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Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 gene.
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- Human Mutation, 2006, v. 27, n. 7, p. 720, doi. 10.1002/humu.9438
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Variation in retinitis pigmentosa-11 ( PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.
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- Human Mutation, 2006, v. 27, n. 7, p. 644, doi. 10.1002/humu.20325
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Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Aβ42 and decreased Aβ40.
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- Human Mutation, 2006, v. 27, n. 7, p. 686, doi. 10.1002/humu.20336
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High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.
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- Human Mutation, 2006, v. 27, n. 7, p. 696, doi. 10.1002/humu.20347
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Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation.
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- Human Mutation, 2006, v. 27, n. 7, p. 717, doi. 10.1002/humu.9433
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Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.
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- Human Mutation, 2006, v. 27, n. 7, p. 719, doi. 10.1002/humu.9437
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A quality assessment survey of SNP genotyping laboratories.
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- Human Mutation, 2006, v. 27, n. 7, p. 711, doi. 10.1002/humu.20346
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Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
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- Human Mutation, 2006, v. 27, n. 7, p. 667, doi. 10.1002/humu.20342
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Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
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- Human Mutation, 2006, v. 27, n. 7, p. 633, doi. 10.1002/humu.20368
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Mutations and polymorphisms in the human ornithine transcarbamylase ( OTC) gene.
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- Human Mutation, 2006, v. 27, n. 7, p. 626, doi. 10.1002/humu.20339
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Genetic variability, haplotypes, and htSNPs for exons 1 at the human UGT1A locus.
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- Human Mutation, 2006, v. 27, n. 7, p. 717, doi. 10.1002/humu.9432
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A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.
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- Human Mutation, 2006, v. 27, n. 7, p. 719, doi. 10.1002/humu.9436
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The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).
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- Human Mutation, 2006, v. 27, n. 7, p. 716, doi. 10.1002/humu.9429
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