Search results for "IATE"
showing 2 items of 4252 documents
WDR45 Gene and Its Role in Pediatric Epilepsies
2021
AbstractWD repeat domain 45 (WDR45) gene has been increasingly found in patients with developmental delay (DD) and epilepsy. Previously, WDR45 de novo mutations were reported in sporadic adult and pediatric patients presenting iron accumulation, while heterozygous mutations were associated with β-propeller protein-associated neurodegeneration (BPAN), a subtype of neurodegeneration with brain iron accumulation disorders, characterized by extrapyramidal movement disorders and abnormal accumulation of iron in the basal ganglia. Overall, people harboring WDR45 mutations have moderate to severe DD and different types of seizures. The phenotype of adult patients is characterized by extrapyramidal…
Search for the Decay of the Higgs Boson to Charm Quarks with the ATLAS Experiment
2018
A direct search for the standard model Higgs boson decaying to a pair of charm quarks is presented. Associated production of the Higgs and Z bosons, in the decay mode ZH→ℓ+ℓ−c¯c is studied. A data set with an integrated luminosity of 36.1 fb−1 of pp collisions at √s=13TeV recorded by the ATLAS experiment at the LHC is used. The H→c¯c signature is identified using charm-tagging algorithms. The observed (expected) upper limit on σ(pp→ZH)×B(H→c¯c) is 2.7 (3.9+2.1−1.1) pb at the 95% confidence level for a Higgs boson mass of 125 GeV, while the standard model value is 26 fb.