An autism-linked mutation disables phosphorylation control of UBE3A.
Research Articles
Abnormal auditory and language pathways in children with 16p11.2 deletion.
Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Genotype-first analysis of the 16p11.2 deletion defines a new type of “autism.”
The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.
Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications.
A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology.
The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.
Neurosteroids promote phosphorylation and membrane insertion of extrasynaptic GABAA receptors.
Autism traits in the RASopathies.
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