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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment
ERC1 GRIN2A SRPX2
2017/8/25
A significant proportion of children have unexplained problems acquiring proficient linguistic skills despite adequate intelligence and opportunity. Developmental language disorders are highly heritab...
Characterisation of CASPR2 deficiency disorder-a syndrome involving autism,epilepsy and language impairment
CNTNAP2 Epilepsy Intellectual disability Language regression Autism
2016/5/3
Background: Heterozygous mutations in CNTNAP2 have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia. However heterozygous CNTN...
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment
autism intellectual disability
2015/12/18
FOXP1 (forkhead box protein P1; OMIM 605515) belongs to the FOX
gene family of transcription factor proteins, defined by the presence of
a characteristic DNA-binding domain known as the forkhe...
Anticipatory sentence processing in children with specific language impairment: Evidence from eye movements during listening
eye movements language impairment
2014/5/7
Twenty-five children with specific language impairment (SLI; age 5 years, 3 months [5;3]–8;2),
50 typically developing children (3;3–8;2), and 31 normal adults participated in three eye-tracking
exp...