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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 ...
A direct molecular link between the autism candidate gene RORa and the schizophrenia candidate MIR137
direct molecular link autism candidate gene RORa the schizophrenia candidate MIR137
2015/5/5
Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-depend...
De novo TBR1 mutations in sporadic autism disrupt protein functions
TBR1 mutations sporadic autism disrupt protein functions
2015/5/5
Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of pr...