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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Academic Article Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Academic Article Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Academic Article Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
Academic Article Genotype-phenotype correlation at codon 1740 of SETD2.
Academic Article Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Academic Article DLG4-related synaptopathy: a new rare brain disorder.
Academic Article Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Academic Article Expanding the KIF4A-associated phenotype.
Academic Article De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Academic Article Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Academic Article Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Academic Article ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Concept Neurodevelopmental Disorders
Grant ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
Academic Article Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Search Criteria
  • Neurodevelopmental Disorders