Works matching IS 10597794 AND DT 2005 AND VI 26 AND IP 3
Results: 27
Strong bias in the location of functional promoter polymorphisms.
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- Human Mutation, 2005, v. 26, n. 3, p. 214, doi. 10.1002/humu.20207
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- Article
A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy.
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- Human Mutation, 2005, v. 26, n. 3, p. 274, doi. 10.1002/humu.20218
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SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
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- Human Mutation, 2005, v. 26, n. 3, p. 282, doi. 10.1002/humu.9362
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De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes.
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- Human Mutation, 2005, v. 26, n. 3, p. 284, doi. 10.1002/humu.9366
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Comparison of yield and genotyping performance of multiple displacement amplification and OmniPlex™ whole genome amplified DNA generated from multiple DNA sources.
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- Human Mutation, 2005, v. 26, n. 3, p. 262, doi. 10.1002/humu.20213
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Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas.
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- Human Mutation, 2005, v. 26, n. 3, p. 280, doi. 10.1002/humu.9359
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Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
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- Human Mutation, 2005, v. 26, n. 3, p. 235, doi. 10.1002/humu.20206
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- Article
Gaucher mutation N188S is associated with myoclonic epilepsy.
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- Human Mutation, 2005, v. 26, n. 3, p. 271, doi. 10.1002/humu.20217
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ATP1A2 mutations in 11 families with familial hemiplegic migraine.
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- Human Mutation, 2005, v. 26, n. 3, p. 281, doi. 10.1002/humu.9361
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DHPLC Analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.
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- Human Mutation, 2005, v. 26, n. 3, p. 283, doi. 10.1002/humu.9365
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Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.
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- Human Mutation, 2005, v. 26, n. 3, p. 205, doi. 10.1002/humu.20212
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Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.
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- Human Mutation, 2005, v. 26, n. 3, p. 280, doi. 10.1002/humu.9358
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LDL-receptor mutations in Europe.
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- Human Mutation, 2005, v. 26, n. 3, p. 277, doi. 10.1002/humu.20223
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The 5′ region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences.
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- Human Mutation, 2005, v. 26, n. 3, p. 255, doi. 10.1002/humu.20216
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Scanning of genetic effects of alcohol metabolism gene ( ADH1B and ADH1C) polymorphisms on the risk of alcoholism.
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- Human Mutation, 2005, v. 26, n. 3, p. 224, doi. 10.1002/humu.20209
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- Article
Mutation spectrum of the APC gene in 83 Korean FAP families.
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- Human Mutation, 2005, v. 26, n. 3, p. 281, doi. 10.1002/humu.9360
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Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.
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- Human Mutation, 2005, v. 26, n. 3, p. 283, doi. 10.1002/humu.9364
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PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.
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- Human Mutation, 2005, v. 26, n. 3, p. 167, doi. 10.1002/humu.20211
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Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.
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- Human Mutation, 2005, v. 26, n. 3, p. 279, doi. 10.1002/humu.9357
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SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
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- Human Mutation, 2005, v. 26, n. 3, p. 176, doi. 10.1002/humu.20215
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Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.
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- Human Mutation, 2005, v. 26, n. 3, p. 249, doi. 10.1002/humu.20208
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Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and 'modifier' polymorphisms.
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- Human Mutation, 2005, v. 26, n. 3, p. 276, doi. 10.1002/humu.20219
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Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles.
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- Human Mutation, 2005, v. 26, n. 3, p. 282, doi. 10.1002/humu.9363
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UMD (Universal Mutation Database): 2005 update.
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- Human Mutation, 2005, v. 26, n. 3, p. 184, doi. 10.1002/humu.20210
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Novel PEX1 coding mutations and 5′ UTR regulatory polymorphisms.
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- Human Mutation, 2005, v. 26, n. 3, p. 279, doi. 10.1002/humu.9356
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Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci.
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- Human Mutation, 2005, v. 26, n. 3, p. 199, doi. 10.1002/humu.20203
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Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools.
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- Human Mutation, 2005, v. 26, n. 3, p. 192, doi. 10.1002/humu.20214
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- Article