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

Alessandra Terracciano

Showing results (21-30 of 49) with videos related to

Pageof 5
Sort By:
Pain|September 8, 2020
Small-fibre pathology has no impact on somatosensory system function in patients with fibromyalgiaAlessandra Fasolino, Giulia Di Stefano, Caterina Leone, et al.
Seizure|September 10, 2022
MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasmsMarina Trivisano, Angela De Dominicis, Alessia Micalizzi, et al.
Endocrine, Metabolic & Immune Disorders Drug Targets|February 27, 2023
A New <i>de novo</i> Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic RicketsAlessandra Terracciano, Margherita Lucia De Bernardi, Roberto Novizio, et al.
American Journal of Medical Genetics. Part A|January 26, 2025
Cardiac Involvement and TBCK -Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?Gioia Mastromoro, Daniele Guadagnolo, Francesca Gianno, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 21, 2012
PRRT2 is mutated in familial and non-familial benign infantile seizuresNicola Specchio, Alessandra Terracciano, Marina Trivisano, et al.
Epilepsy & Behavior : E&B|May 14, 2020
Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic conditionMarina Trivisano, Manuel Rivera, Alessandra Terracciano, et al.
European Journal of Human Genetics : EJHG|January 19, 2022
Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumorLorenzo Sinibaldi, Alessia Micalizzi, Annalisa Serra, et al.
Glycoconjugate Journal|September 19, 2019
ALG12-CDG: novel glycophenotype insights endorse the molecular defectLuisa Sturiale, Sebastiano Bianca, Domenico Garozzo, et al.
Epilepsia|May 5, 2017
Reduced steroidogenesis in patients with PCDH19-female limited epilepsyMarina Trivisano, Chiara Lucchi, Cecilia Rustichelli, et al.
Seizure|August 23, 2024
POLR3B de novo variants are a rare cause of infantile myoclonic epilepsyAngela De Dominicis, Fabrizia Stregapede, Vito Luigi Colona, et al.
Pageof 5

Showing results (21-30 of 49) with videos related to

Sort By:
Pageof 5
Pain|September 8, 2020
Small-fibre pathology has no impact on somatosensory system function in patients with fibromyalgiaAlessandra Fasolino, Giulia Di Stefano, Caterina Leone, et al.
Seizure|September 10, 2022
MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasmsMarina Trivisano, Angela De Dominicis, Alessia Micalizzi, et al.
Endocrine, Metabolic & Immune Disorders Drug Targets|February 27, 2023
A New <i>de novo</i> Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic RicketsAlessandra Terracciano, Margherita Lucia De Bernardi, Roberto Novizio, et al.
American Journal of Medical Genetics. Part A|January 26, 2025
Cardiac Involvement and TBCK -Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?Gioia Mastromoro, Daniele Guadagnolo, Francesca Gianno, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 21, 2012
PRRT2 is mutated in familial and non-familial benign infantile seizuresNicola Specchio, Alessandra Terracciano, Marina Trivisano, et al.
Epilepsy & Behavior : E&B|May 14, 2020
Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic conditionMarina Trivisano, Manuel Rivera, Alessandra Terracciano, et al.
European Journal of Human Genetics : EJHG|January 19, 2022
Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumorLorenzo Sinibaldi, Alessia Micalizzi, Annalisa Serra, et al.
Glycoconjugate Journal|September 19, 2019
ALG12-CDG: novel glycophenotype insights endorse the molecular defectLuisa Sturiale, Sebastiano Bianca, Domenico Garozzo, et al.
Epilepsia|May 5, 2017
Reduced steroidogenesis in patients with PCDH19-female limited epilepsyMarina Trivisano, Chiara Lucchi, Cecilia Rustichelli, et al.
Seizure|August 23, 2024
POLR3B de novo variants are a rare cause of infantile myoclonic epilepsyAngela De Dominicis, Fabrizia Stregapede, Vito Luigi Colona, et al.
Pageof 5