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List of works by Giuseppe Calabrese

An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.

scientific article

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

scientific article

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Eyelid myoclonia with absences in three subjects with mental retardation

scientific article published on 01 August 2000

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

scientific article

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

scientific article published in April 2009

Seizures and EEG pattern in the 22q13.3 deletion syndrome: clinical report of six Italian cases

scientific article published in July 2014

The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?

scientific article published on 25 January 2013

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