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Raffaella Minardi

Showing results (1-10 of 40) with videos related to

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The Lancet. Neurology|September 20, 2024
RAB32 mutation in Parkinson's diseaseEdoardo Monfrini, Raffaella Minardi, Franco Valzania, et al.
Diabetes Research and Clinical Practice|September 23, 2016
A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndromeGiulio Maltoni, Raffaella Minardi, Carlotta Pia Cristalli, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 16, 2023
Reply to: "Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort"Marco Percetti, Edoardo Monfrini, Leonardo Caporali, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 14, 2022
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European CohortsMarco Percetti, Edoardo Monfrini, Leonardo Caporali, et al.
Molecular Genetics & Genomic Medicine|December 13, 2023
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleepLaura Licchetta, Lucia Di Giorgi, Margherita Santucci, et al.
Molecular Syndromology|April 8, 2024
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19Giulia Parmeggiani, Raffaella Minardi, Antonella Boni, et al.
Neurology. Genetics|November 16, 2022
Complete Agenesis of Corpus Callosum in <i>KCNQ2</i>-Related Neonatal Epileptic EncephalopathyLaura Licchetta, Raffaella Minardi, Lorenzo Muccioli, et al.
Seizure|December 14, 2019
Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patientsLaura Licchetta, Tommaso Pippucci, Sara Baldassari, et al.
Frontiers in Neurology|February 14, 2022
Epilepsy With Auditory Features: From Etiology to TreatmentAlessandro Furia, Laura Licchetta, Lorenzo Muccioli, et al.
Epilepsia|July 4, 2026
Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathyLaura Licchetta, Giulia Bruschi, Tania Giangregorio, et al.
Pageof 4

Showing results (1-10 of 40) with videos related to

Sort By:
Pageof 4
The Lancet. Neurology|September 20, 2024
RAB32 mutation in Parkinson's diseaseEdoardo Monfrini, Raffaella Minardi, Franco Valzania, et al.
Diabetes Research and Clinical Practice|September 23, 2016
A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndromeGiulio Maltoni, Raffaella Minardi, Carlotta Pia Cristalli, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 16, 2023
Reply to: "Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort"Marco Percetti, Edoardo Monfrini, Leonardo Caporali, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 14, 2022
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European CohortsMarco Percetti, Edoardo Monfrini, Leonardo Caporali, et al.
Molecular Genetics & Genomic Medicine|December 13, 2023
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleepLaura Licchetta, Lucia Di Giorgi, Margherita Santucci, et al.
Molecular Syndromology|April 8, 2024
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19Giulia Parmeggiani, Raffaella Minardi, Antonella Boni, et al.
Neurology. Genetics|November 16, 2022
Complete Agenesis of Corpus Callosum in <i>KCNQ2</i>-Related Neonatal Epileptic EncephalopathyLaura Licchetta, Raffaella Minardi, Lorenzo Muccioli, et al.
Seizure|December 14, 2019
Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patientsLaura Licchetta, Tommaso Pippucci, Sara Baldassari, et al.
Frontiers in Neurology|February 14, 2022
Epilepsy With Auditory Features: From Etiology to TreatmentAlessandro Furia, Laura Licchetta, Lorenzo Muccioli, et al.
Epilepsia|July 4, 2026
Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathyLaura Licchetta, Giulia Bruschi, Tania Giangregorio, et al.
Pageof 4