Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Claudia Ciaccio

Showing results (21-30 of 36) with videos related to

Pageof 4
Sort By:
European Journal of Medical Genetics|December 11, 2020
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variantClaudia Ciaccio, Valentina Duga, Chiara Pantaleoni, et al.
Neurology. Genetics|April 24, 2023
Neurologic, Neuropsychologic, and Neuroradiologic Features of <i>EBF3</i>-Related SyndromeClaudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 29, 2023
Rhythmic cortical myoclonus in patients with 6Q22.1 deletionLaura Canafoglia, Federica Zibordi, Francesco Deleo, et al.
Genes|March 28, 2020
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)Emanuela Leonardi, Mariagrazia Bellini, Maria C Aspromonte, et al.
Frontiers in Pharmacology|January 4, 2021
Identification of an Identical <i>de Novo</i> SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental DelayXianru Jiao, Manuela Morleo, Vincenzo Nigro, et al.
Seizure|January 22, 2026
Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort studyMario Mastrangelo, Manuela Tolve, Irene Valenzuela, et al.
Genes|November 27, 2024
Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number VariationsCamilla Meossi, Alessia Carrer, Claudia Ciaccio, et al.
Human Genetics|February 28, 2025
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challengeMaria Cristina Aspromonte, Alessio Del Conte, Roberta Polli, et al.
European Journal of Human Genetics : EJHG|November 26, 2022
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variantsEmanuela Leonardi, Maria Cristina Aspromonte, Denise Drongitis, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
European Journal of Medical Genetics|December 11, 2020
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variantClaudia Ciaccio, Valentina Duga, Chiara Pantaleoni, et al.
Neurology. Genetics|April 24, 2023
Neurologic, Neuropsychologic, and Neuroradiologic Features of <i>EBF3</i>-Related SyndromeClaudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 29, 2023
Rhythmic cortical myoclonus in patients with 6Q22.1 deletionLaura Canafoglia, Federica Zibordi, Francesco Deleo, et al.
Genes|March 28, 2020
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)Emanuela Leonardi, Mariagrazia Bellini, Maria C Aspromonte, et al.
Frontiers in Pharmacology|January 4, 2021
Identification of an Identical <i>de Novo</i> SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental DelayXianru Jiao, Manuela Morleo, Vincenzo Nigro, et al.
Seizure|January 22, 2026
Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort studyMario Mastrangelo, Manuela Tolve, Irene Valenzuela, et al.
Genes|November 27, 2024
Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number VariationsCamilla Meossi, Alessia Carrer, Claudia Ciaccio, et al.
Human Genetics|February 28, 2025
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challengeMaria Cristina Aspromonte, Alessio Del Conte, Roberta Polli, et al.
European Journal of Human Genetics : EJHG|November 26, 2022
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variantsEmanuela Leonardi, Maria Cristina Aspromonte, Denise Drongitis, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
Pageof 4