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Schwachman-Diamond syndrome: Increased risk for autoimmune diseases?
Capnogram shape in obstructive lung disease.
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Pathogenesis and Consequences of Disordered Sleep in PCOS.
The Commons Alliance: A Partnership to Catalyze the Creation of an NIH Data Commons
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Dobyns, William
One or more keywords matched the following items that are connected to
Dobyns, William
Item Type
Name
Concept
Autistic Disorder
Academic Article
Recurrent 16p11.2 microdeletions in autism.
Academic Article
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Academic Article
Association and mutation analyses of 16p11.2 autism candidate genes.
Academic Article
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
Academic Article
Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Academic Article
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Academic Article
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
Academic Article
Progress in autism and related disorders of brain development.
Academic Article
Progress in autism research and postgenomic studies - Authors' reply.
Academic Article
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Academic Article
DLG4-related synaptopathy: a new rare brain disorder.
Academic Article
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Concept
Autism Spectrum Disorder
Grant
ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
Grant
Megalencephaly and segmental brain overgrowth in humans
Grant
The genetic basis of Dandy-Walker and other mid-hindbrain malformations
Search Criteria
Autistic Disorder