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Background
Tuberous sclerosis complex (TSC) is a genetic disorder associated with tumour growth in various organs, including the brain, kidneys, heart and skin. Cutaneous lesions are prevalent manifestations of TSC, occurring in up to 90% of patients. Oral mammalian target of rapamycin inhibitors, such as everolimus, is believed to be effective for treatment of TSC‐associated lesions because they...
The need for in vivo wireless acquisition of biological signals is emerging in various medical fields. Electrophysiological applications including recording gastric electrical activity (GEA), electrocorticography (ECoG), and transcranical motor evoked potentials (TcMEP) require physically miniaturized devices with low power consumption and capability of implantation. We have developed three telemetric...
The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype–phenotype correlations have been found but all patients have mental retardation and severe delay, or absence of, expressive speech. We carried out clinical and molecular characterization of 13 patients. Developmental delay and speech abnormalities were common to all and comparable in frequency...
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