The University of Chicago Header Logo

Search Result Details

Back to Search Results
This page shows the details of why an item matched the keywords from your search.
Search Results
Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Sequence Homology, Amino Acid
Concept Sequence Homology
Academic Article The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Academic Article Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
Academic Article Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Academic Article Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Academic Article De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Academic Article Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
Academic Article G protein-coupled receptor-dependent development of human frontal cortex.
Academic Article Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.
Academic Article Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Academic Article Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.
Academic Article De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Search Criteria
  • Sequence Homology