搜索结果: 1-15 共查到“文学 impairment”相关记录16条 . 查询时间(0.062 秒)
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...
Resumptive pronouns as a last resort when movement is impaired: Relative clauses in hearing impairment
pronouns Hearing impairment
2015/9/6
This study tested 14 school-age orally-trained children with hearing impairment who
have a deficit in A-bar movement, manifested in an impaired comprehension of object
relatives and topicalization...
No right to speak?The relationship between object naming and semantic impairment:Neuropsychological evidence and a computational model
No right to speak object naming semantic impairment Neuropsychological evidence computational model
2015/6/19
No right to speak?The relationship between object naming and semantic impairment:Neuropsychological evidence and a computational model.
Can a perceptual processing deficit explain the impairment of inflectional morphology in developmental dysphasia?A computational investigation
perceptual processing deficit inflectional morphology developmental dysphasia computational investigation
2015/6/19
Developmental dysphasia (also referred to as specific language impairment) is a developmental language disorder in which children display delayed or abnormal language development but have normal non-v...
A Computational Model of Semantic Memory Impairment:Modality Specificity and Emergent Category Specificity
Computational Model Semantic Memory Impairment Modality Specificity Emergent Category Specificity
2015/6/19
It is demonstrated how a modality-specific semantic memory system can account for categoryspecific impairments after brain damage. In Experiment I, the hypothesis that visual and functional knowledge ...
Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment
Exome Sequencing Admixed Isolated Population NFXL1 Variants Specific Language Impairment
2015/5/13
Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of...
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...
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment
FOXP1 variant autism intellectual disability severe speech language impairment
2015/5/13
FOXP1 (forkhead box protein P1) is a transcription factor involved in the development of several tissues, including the brain. An emerging phenotype of patients with protein-disrupting FOXP1 variants ...
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 ...
Associations of HLA alleles with specific language impairment
Specific language impairment (SLI) HLA Neurodevelopmental disorders Genetic association
2015/5/5
Human leukocyte antigen (HLA) loci have been implicated in several neurodevelopmental disorders in which language is affected. However, to date, no studies have investigated the possible involvement o...
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment
ZNF277 SLI language
2015/5/5
Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex gen...
The impairment of emotion recognition in Huntington’s disease extends to positive emotions
Huntington’s disease Emotion Vocalizations
2015/4/10
Patients with Huntington’s Disease (HD) are impaired in the recognition of emotional
signals. However, the nature and extent of the impairment is controversial: it has variously
been argued to dispr...
Specific language impairment (SLI) is defined as an unexpected and persistent impairment in language ability despite adequate opportunity and intelligence and in the absence of any explanatory medical...