Found: 21
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Long-range PCR facilitates the identification of PMS2-specific mutations.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1155, doi. 10.1002/humu.20437
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- Publication type:
- Article
Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase α sites.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1065, doi. 10.1002/humu.20352
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- Article
Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1072, doi. 10.1002/humu.20378
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- Article
Phenotypic heterogeneity in the XPB DNA helicase gene ( ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1092, doi. 10.1002/humu.20392
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- Article
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1160, doi. 10.1002/humu.9467
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- Article
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1135, doi. 10.1002/humu.20390
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- Publication type:
- Article
Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1143, doi. 10.1002/humu.20398
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- Publication type:
- Article
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1157, doi. 10.1002/humu.9462
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- Article
Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1159, doi. 10.1002/humu.9466
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- Publication type:
- Article
High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1156, doi. 10.1002/humu.20438
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- Article
Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1157, doi. 10.1002/humu.9461
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- Publication type:
- Article
Identification of novel mutations in the human ornithine transcarbamylase ( OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1159, doi. 10.1002/humu.9465
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- Publication type:
- Article
Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1122, doi. 10.1002/humu.20415
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- Article
Erratum: Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1160, doi. 10.1002/humu.9468
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- Publication type:
- Article
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1082, doi. 10.1002/humu.20388
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- Publication type:
- Article
Deficient membrane integration of the novel p.N14D -GJB2 mutant associated with non-syndromic hearing impairment.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1158, doi. 10.1002/humu.9464
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- Publication type:
- Article
NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1104, doi. 10.1002/humu.20396
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- Publication type:
- Article
MUT-TP53: a versatile matrix for TP53 mutation verification and publication.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1151, doi. 10.1002/humu.20395
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- Article
Long contiguous stretches of homozygosity in the human genome.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1115, doi. 10.1002/humu.20399
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- Publication type:
- Article
SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1129, doi. 10.1002/humu.20377
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- Article
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1158, doi. 10.1002/humu.9463
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- Publication type:
- Article