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List of works by Maria Bottitta

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 mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

scientific article published on 15 October 2019

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients

scientific article published on 21 January 2010

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

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

scientific article published in July 2014

Sleep in subjects with autistic disorder: a neurophysiological and psychological study.

scientific article

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