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Genome-wide analysis identifies a role for common copy number variants in specific language impairment
Genome-wide analysis copy number variants specific language impairment
2015/5/13
An exploratory genome-wide copy number variant (CNV) study was performed in 127 independent cases with specific language impairment (SLI), their first-degree relatives (385 individuals) and 269 popula...
Genome wide identification of Fruitless targets suggests a role in upregulating genes important for neural circuit formation
Genome wide identification upregulating genes neural circuit
2015/5/6
The fruitless gene (fru) encodes a set of transcription factors (Fru) that display sexually dimorphic gene expression in the brain of the fruit-fly; Drosophila melanogaster. Behavioural studies have d...
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment
ALSPAC GWAS imprinting neurodevelopmental disorder specific language impairment
2015/5/5
Specific language impairment (SLI) is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal. We report the results of a genome-wide association study of ...
Consanguinity studies and genome research in Mediterranean developing countries
autosomal recessive disorders exome homozygosity genomics of consanguinity homozygosity index
2015/4/21
Classical studies of consanguinity have taken advantage of the relationship between the gene frequency for a rare autosomal recessive disorder (q) and the proportion of offspring of consanguineous cou...