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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept HEK293 Cells
Academic Article Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Academic Article CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
Academic Article De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Academic Article De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Academic Article Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
Academic Article Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Academic Article Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
Academic Article De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Academic Article Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Academic Article Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Academic Article Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Academic Article NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Academic Article Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
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  • HEK293 Cells