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Works
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Functional impact of global rare copy number variation in autism spectrum disorders
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits
A 15q13.3 microdeletion segregating with autism
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses
Genomic studies of gene expression: regulation of the Wilson disease gene
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability
