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 (111-120 of 178) with videos related to

Pageof 18
Sort By:
Clinical Genetics|June 29, 2025
Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal AnomaliesChiara Minotti, Sara Terreri, Andrea Del Fattore, et al.
Hepatology (Baltimore, Md.)|November 19, 2016
Mutual epithelium-macrophage dependency in liver carcinogenesis mediated by ST18Micol Ravà, Aleco D'Andrea, Mirko Doni, et al.
Molecular Genetics & Genomic Medicine|December 2, 2023
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective studyErica Rosina, Lidia Pezzani, Erika Apuril, et al.
Journal of Molecular and Cellular Cardiology|December 14, 2024
Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathyIrene Bottillo, Maria Pia Ciccone, Monia Magliozzi, et al.
Human Mutation|March 11, 2015
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL AssociationAnnalisa Vetro, Maria Iascone, Ivan Limongelli, et al.
Circulation. Genomic and Precision Medicine|November 5, 2020
Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European RegistryDor Lotan, Joel Salazar-Mendiguchía, Jens Mogensen, et al.
Genes|January 28, 2026
Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?Alessia Carrer, Francesco Maria Crupano, Berardo Rinaldi, et al.
Frontiers in Neurology|March 21, 2024
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoringEleonora Bonaventura, Luisella Alberti, Simona Lucchi, et al.
Journal of Cardiovascular Development and Disease|January 20, 2022
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family ManagementLaura Pezzoli, Lidia Pezzani, Ezio Bonanomi, et al.
Frontiers in Neurology|January 26, 2023
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoringEleonora Bonaventura, Luisella Alberti, Simona Lucchi, et al.
Pageof 18

Showing results (111-120 of 178) with videos related to

Sort By:
Pageof 18
Clinical Genetics|June 29, 2025
Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal AnomaliesChiara Minotti, Sara Terreri, Andrea Del Fattore, et al.
Hepatology (Baltimore, Md.)|November 19, 2016
Mutual epithelium-macrophage dependency in liver carcinogenesis mediated by ST18Micol Ravà, Aleco D'Andrea, Mirko Doni, et al.
Molecular Genetics & Genomic Medicine|December 2, 2023
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective studyErica Rosina, Lidia Pezzani, Erika Apuril, et al.
Journal of Molecular and Cellular Cardiology|December 14, 2024
Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathyIrene Bottillo, Maria Pia Ciccone, Monia Magliozzi, et al.
Human Mutation|March 11, 2015
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL AssociationAnnalisa Vetro, Maria Iascone, Ivan Limongelli, et al.
Circulation. Genomic and Precision Medicine|November 5, 2020
Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European RegistryDor Lotan, Joel Salazar-Mendiguchía, Jens Mogensen, et al.
Genes|January 28, 2026
Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?Alessia Carrer, Francesco Maria Crupano, Berardo Rinaldi, et al.
Frontiers in Neurology|March 21, 2024
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoringEleonora Bonaventura, Luisella Alberti, Simona Lucchi, et al.
Journal of Cardiovascular Development and Disease|January 20, 2022
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family ManagementLaura Pezzoli, Lidia Pezzani, Ezio Bonanomi, et al.
Frontiers in Neurology|January 26, 2023
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoringEleonora Bonaventura, Luisella Alberti, Simona Lucchi, et al.
Pageof 18