Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 12
Results: 12
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 ( NF1) gene.
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- Human Mutation, 2012, v. 33, n. 12, p. 1687, doi. 10.1002/humu.22162
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- Article
Functional characterization of MLH1 missense variants identified in lynch syndrome patients.
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- Human Mutation, 2012, v. 33, n. 12, p. 1647, doi. 10.1002/humu.22153
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- Article
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
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- Human Mutation, 2012, v. 33, n. 12, p. 1639, doi. 10.1002/humu.22237
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- Article
Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers.
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- Human Mutation, 2012, v. 33, n. 12, p. 1630, doi. 10.1002/humu.22167
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- Article
Mutations of ANK3 identified by exome sequencing are associated with Autism susceptibility.
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- Human Mutation, 2012, v. 33, n. 12, p. 1635, doi. 10.1002/humu.22174
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- Article
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
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- Human Mutation, 2012, v. 33, n. 12, p. 1656, doi. 10.1002/humu.22155
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- Article
Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.
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- Human Mutation, 2012, v. 33, n. 12, p. 1665, doi. 10.1002/humu.22159
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- Article
Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities.
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- Human Mutation, 2012, v. 33, n. 12, p. 1708, doi. 10.1002/humu.22161
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- Article
Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.
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- Human Mutation, 2012, v. 33, n. 12, p. 1676, doi. 10.1002/humu.22160
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- Article
Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: Application for diagnosis of osteogenesis imperfecta.
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- Human Mutation, 2012, v. 33, n. 12, p. 1697, doi. 10.1002/humu.22146
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- Article
ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.
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- Human Mutation, 2012, v. 33, n. 12, p. 1626, doi. 10.1002/humu.22166
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- Article
Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future.
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- Human Mutation, 2012, v. 33, n. 12, p. 1617, doi. 10.1002/humu.22168
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- Article