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Maria Iascone

Showing results (121-130 of 178) with videos related to

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International Journal of Neonatal Screening|October 24, 2025
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot StudyEleonora Bonaventura, Fabio Bruschi, Luisella Alberti, et al.
The American Journal of Cardiology|July 20, 2014
Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathyElena Biagini, Iacopo Olivotto, Maria Iascone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsyLydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, et al.
Clinical Genetics|May 20, 2025
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, et al.
Clinical Genetics|April 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare DiseasesCamilla Lucca, Erica Rosina, Lidia Pezzani, et al.
European Journal of Human Genetics : EJHG|July 19, 2023
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathyDario Ronchi, Manuela Garbellini, Francesca Magri, et al.
Clinical Genetics|April 27, 2020
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndromeSara C Reichert, Rachel Li, Scott A Turner, et al.
Genes|March 29, 2023
Prenatal Clinical Findings in <i>RASA1</i>-Related Capillary Malformation-Arteriovenous Malformation SyndromeEmanuele Coccia, Lara Valeri, Roberta Zuntini, et al.
The Journal of Clinical Investigation|July 17, 2018
P2X7R mutation disrupts the NLRP3-mediated Th program and predicts poor cardiac allograft outcomesFrancesca D'Addio, Andrea Vergani, Luciano Potena, et al.
Cardiovascular Research|September 11, 2019
Human iPSC modelling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytesPatrizia Benzoni, Giulia Campostrini, Sara Landi, et al.
Pageof 18

Showing results (121-130 of 178) with videos related to

Sort By:
Pageof 18
International Journal of Neonatal Screening|October 24, 2025
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot StudyEleonora Bonaventura, Fabio Bruschi, Luisella Alberti, et al.
The American Journal of Cardiology|July 20, 2014
Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathyElena Biagini, Iacopo Olivotto, Maria Iascone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsyLydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, et al.
Clinical Genetics|May 20, 2025
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, et al.
Clinical Genetics|April 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare DiseasesCamilla Lucca, Erica Rosina, Lidia Pezzani, et al.
European Journal of Human Genetics : EJHG|July 19, 2023
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathyDario Ronchi, Manuela Garbellini, Francesca Magri, et al.
Clinical Genetics|April 27, 2020
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndromeSara C Reichert, Rachel Li, Scott A Turner, et al.
Genes|March 29, 2023
Prenatal Clinical Findings in <i>RASA1</i>-Related Capillary Malformation-Arteriovenous Malformation SyndromeEmanuele Coccia, Lara Valeri, Roberta Zuntini, et al.
The Journal of Clinical Investigation|July 17, 2018
P2X7R mutation disrupts the NLRP3-mediated Th program and predicts poor cardiac allograft outcomesFrancesca D'Addio, Andrea Vergani, Luciano Potena, et al.
Cardiovascular Research|September 11, 2019
Human iPSC modelling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytesPatrizia Benzoni, Giulia Campostrini, Sara Landi, et al.
Pageof 18