Found: 21
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MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 814, doi. 10.1002/humu.20330
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- Publication type:
- Article
Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 778, doi. 10.1002/humu.20358
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- Publication type:
- Article
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 786, doi. 10.1002/humu.20360
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- Publication type:
- Article
Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE).
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 831, doi. 10.1002/humu.9444
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- Publication type:
- Article
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene ( GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 830, doi. 10.1002/humu.9443
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- Publication type:
- Article
Paternal bias in parental origin of HRAS mutations in Costello syndrome.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 736, doi. 10.1002/humu.20381
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- Publication type:
- Article
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 748, doi. 10.1002/humu.20349
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- Publication type:
- Article
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 830, doi. 10.1002/humu.9442
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- Publication type:
- Article
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 832, doi. 10.1002/humu.9446
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- Publication type:
- Article
Spectrum of factor XI ( F11) mutations in the UK population - 116 index cases and 140 mutations.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 829, doi. 10.1002/humu.9439
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- Publication type:
- Article
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of the NIPBL Gene.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 731, doi. 10.1002/humu.20380
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- Publication type:
- Article
Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 830, doi. 10.1002/humu.9441
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- Publication type:
- Article
Phenotypic consequences of branch point substitutions.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 803, doi. 10.1002/humu.20362
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- Publication type:
- Article
Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterization.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 822, doi. 10.1002/humu.20355
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- Publication type:
- Article
Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 831, doi. 10.1002/humu.9445
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- Publication type:
- Article
Characterization of CHEK2 mutations in prostate cancer.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 742, doi. 10.1002/humu.20321
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- Publication type:
- Article
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 796, doi. 10.1002/humu.20361
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- Publication type:
- Article
Mutations of human cationic trypsinogen ( PRSS1) and chronic pancreatitis.
- Published in:
- 2006
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- Publication type:
- Other
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 770, doi. 10.1002/humu.20354
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- Publication type:
- Article
V(D)J recombinase mediated inter-chromosomal HPRT alterations at cryptic recombination signal sequences in peripheral human T cells.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 829, doi. 10.1002/humu.9440
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- Publication type:
- Article
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 760, doi. 10.1002/humu.20353
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- Publication type:
- Article