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

Maria Iascone

Showing results (31-40 of 178) with videos related to

Pageof 18
Sort By:
Glycobiology|October 5, 2019
A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9Rossella Indellicato, Ruben Domenighini, Nadia Malagolini, et al.
Glycobiology|December 22, 2018
Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylationRossella Indellicato, Rossella Parini, Ruben Domenighini, et al.
Circulation. Cardiovascular Imaging|October 22, 2019
Severe Late-Onset Fabry Cardiomyopathy Unmasked by a Multimodality Imaging ApproachIonela-Simona Visoiu, Andrea Olivia Ciobanu, Alina Ioana Nicula, et al.
Anatolian Journal of Cardiology|September 3, 2019
Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literatureSebastian Militaru, Robert Adam, Lucian Dorobantu, et al.
Frontiers in Neurology|July 24, 2023
Case report: Early-onset parkinsonism among the neurological features in children with <i>PHACTR1</i> variantsRoberto Previtali, Alessia Leidi, Martina Basso, et al.
European Journal of Medical Genetics|October 15, 2021
ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literatureAngelo Russo, Cristina Forest, Giulia Joy Leone, et al.
The Journal of Thoracic and Cardiovascular Surgery|January 22, 2009
Toward the development of a fully elastic mitral ring: preliminary, acute, in vivo evaluation of physiomechanical behaviorPaolo Ferrazzi, Attilio Iacovoni, Samuele Pentiricci, et al.
Frontiers in Cardiovascular Medicine|December 10, 2024
Genetics architecture of spontaneous coronary artery dissection in an Italian cohortMarta Casula, Daniela Marchetti, Lucia Trevisan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 16, 2022
Correspondence on "Expanded phenotype of AARS1-related white matter disease" by Helman et alAlessia Leidi, Roberto Previtali, Cecilia Parazzini, et al.
American Journal of Medical Genetics. Part A|October 15, 2020
Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patientTommaso Lo Barco, Elisa Osanni, Andrea Bordugo, et al.
Pageof 18

Showing results (31-40 of 178) with videos related to

Sort By:
Pageof 18
Glycobiology|October 5, 2019
A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9Rossella Indellicato, Ruben Domenighini, Nadia Malagolini, et al.
Glycobiology|December 22, 2018
Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylationRossella Indellicato, Rossella Parini, Ruben Domenighini, et al.
Circulation. Cardiovascular Imaging|October 22, 2019
Severe Late-Onset Fabry Cardiomyopathy Unmasked by a Multimodality Imaging ApproachIonela-Simona Visoiu, Andrea Olivia Ciobanu, Alina Ioana Nicula, et al.
Anatolian Journal of Cardiology|September 3, 2019
Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literatureSebastian Militaru, Robert Adam, Lucian Dorobantu, et al.
Frontiers in Neurology|July 24, 2023
Case report: Early-onset parkinsonism among the neurological features in children with <i>PHACTR1</i> variantsRoberto Previtali, Alessia Leidi, Martina Basso, et al.
European Journal of Medical Genetics|October 15, 2021
ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literatureAngelo Russo, Cristina Forest, Giulia Joy Leone, et al.
The Journal of Thoracic and Cardiovascular Surgery|January 22, 2009
Toward the development of a fully elastic mitral ring: preliminary, acute, in vivo evaluation of physiomechanical behaviorPaolo Ferrazzi, Attilio Iacovoni, Samuele Pentiricci, et al.
Frontiers in Cardiovascular Medicine|December 10, 2024
Genetics architecture of spontaneous coronary artery dissection in an Italian cohortMarta Casula, Daniela Marchetti, Lucia Trevisan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 16, 2022
Correspondence on "Expanded phenotype of AARS1-related white matter disease" by Helman et alAlessia Leidi, Roberto Previtali, Cecilia Parazzini, et al.
American Journal of Medical Genetics. Part A|October 15, 2020
Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patientTommaso Lo Barco, Elisa Osanni, Andrea Bordugo, et al.
Pageof 18