GREGoR: Accelerating Genomics for Rare Diseases
Rare diseases are collectively common, affecting approximately one in twenty individuals
worldwide. In recent years, rapid progress has been made in rare disease diagnostics due …
worldwide. In recent years, rapid progress has been made in rare disease diagnostics due …
DENND5A-related developmental and epileptic encephalopathy driven by loss of symmetric cell division of apical neural progenitors
E Banks - 2023 - search.proquest.com
Developmental and epileptic encephalopathies (DEEs) are a heterogenous group of
epilepsies in which altered brain development leads to developmental delay and seizures …
epilepsies in which altered brain development leads to developmental delay and seizures …