Found: 18
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Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.
- Published in:
- Human Mutation, 2005, v. 26, n. 5, p. 496, doi. 10.1002/humu.9381
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- Article
Genetic variant characterization in intron 4 of the surfactant protein B gene.
- Published in:
- Human Mutation, 2005, v. 26, n. 5, p. 494, doi. 10.1002/humu.9378
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- Article
Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders.
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- Human Mutation, 2005, v. 26, n. 5, p. 462, doi. 10.1002/humu.20221
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- Article
Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.
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- Human Mutation, 2005, v. 26, n. 5, p. 477, doi. 10.1002/humu.20243
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- Article
Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies.
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- Human Mutation, 2005, v. 26, n. 5, p. 399, doi. 10.1002/humu.20225
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- Article
Erratum: the mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).
- Published in:
- Human Mutation, 2005, v. 26, n. 5, p. 495, doi. 10.1002/humu.9380
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- Article
Predicting the oncogenicity of missense mutations reported in the International Agency for Cancer Research (IARC) mutation database on p53.
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- Human Mutation, 2005, v. 26, n. 5, p. 446, doi. 10.1002/humu.20242
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- Article
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
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- Human Mutation, 2005, v. 26, n. 5, p. 413, doi. 10.1002/humu.20231
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- Article
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
- Published in:
- Human Mutation, 2005, v. 26, n. 5, p. 494, doi. 10.1002/humu.9377
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- Article
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene.
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- Human Mutation, 2005, v. 26, n. 5, p. 426, doi. 10.1002/humu.20235
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- Article
Expression of NF1 pseudogenes.
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- Human Mutation, 2005, v. 26, n. 5, p. 487, doi. 10.1002/humu.20246
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- Article
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
- Published in:
- Human Mutation, 2005, v. 26, n. 5, p. 497, doi. 10.1002/humu.9383
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- Article
Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3′ untranslated region of the factor VII (FVII) gene: molecular characterization of a patient with severe FVII deficiency.
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- Human Mutation, 2005, v. 26, n. 5, p. 455, doi. 10.1002/humu.20241
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- Article
Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression.
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- Human Mutation, 2005, v. 26, n. 5, p. 437, doi. 10.1002/humu.20234
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- Article
Locus-specific databases: from ethical principles to practice.
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- Human Mutation, 2005, v. 26, n. 5, p. 489, doi. 10.1002/humu.20245
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- Article
Statistical geometry approach to the study of functional effects of human nonsynonymous SNPs.
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- Human Mutation, 2005, v. 26, n. 5, p. 471, doi. 10.1002/humu.20238
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- Article
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.
- Published in:
- Human Mutation, 2005, v. 26, n. 5, p. 496, doi. 10.1002/humu.9382
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- Publication type:
- Article
Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.
- Published in:
- Human Mutation, 2005, v. 26, n. 5, p. 495, doi. 10.1002/humu.9379
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- Publication type:
- Article