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Federica Invernizzi

Showing results (81-90 of 115) with videos related to

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Genes|July 29, 2023
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemiaFederica Invernizzi, Rossella Izzo, Isabel Colangelo, et al.
Nature Genetics|November 9, 2010
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiencyTobias B Haack, Katharina Danhauser, Birgit Haberberger, et al.
Healthcare (Basel, Switzerland)|March 28, 2024
Effectiveness of Preoperative Immunonutrition in Improving Surgical Outcomes after Radical Cystectomy for Bladder Cancer: Study Protocol for a Multicentre, Open-Label, Randomised Trial (INu-RC)Valentina Da Prat, Lucia Aretano, Marco Moschini, et al.
Brain : a Journal of Neurology|March 2, 2023
Variants in ATP5F1B are associated with dominantly inherited dystoniaAlessia Nasca, Niccolò E Mencacci, Federica Invernizzi, et al.
Journal of Neurology|October 28, 2016
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypesAlessandra Torraco, Anna Ardissone, Federica Invernizzi, et al.
Iscience|February 21, 2024
Fat-to-blood recirculation of partially dysfunctional PD-1<sup>+</sup>CD4 Tconv cells is associated with dysglycemia in human obesityAnna Giovenzana, Eugenia Bezzecchi, Anita Bichisecchi, et al.
Human Mutation|March 14, 2021
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestationAlessandra Torraco, Alessia Nasca, Daniela Verrigni, et al.
Biochemical and Biophysical Research Communications|January 13, 2009
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6Natalia Cannelli, Barbara Garavaglia, Alessandro Simonati, et al.
Brain Communications|December 9, 2022
Adult-onset KMT2B-related dystoniaEdoardo Monfrini, Andrea Ciolfi, Francesco Cavallieri, et al.
Human Mutation|August 10, 2013
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeastEnrico Baruffini, Cristina Dallabona, Federica Invernizzi, et al.
Pageof 12

Showing results (81-90 of 115) with videos related to

Sort By:
Pageof 12
Genes|July 29, 2023
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemiaFederica Invernizzi, Rossella Izzo, Isabel Colangelo, et al.
Nature Genetics|November 9, 2010
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiencyTobias B Haack, Katharina Danhauser, Birgit Haberberger, et al.
Healthcare (Basel, Switzerland)|March 28, 2024
Effectiveness of Preoperative Immunonutrition in Improving Surgical Outcomes after Radical Cystectomy for Bladder Cancer: Study Protocol for a Multicentre, Open-Label, Randomised Trial (INu-RC)Valentina Da Prat, Lucia Aretano, Marco Moschini, et al.
Brain : a Journal of Neurology|March 2, 2023
Variants in ATP5F1B are associated with dominantly inherited dystoniaAlessia Nasca, Niccolò E Mencacci, Federica Invernizzi, et al.
Journal of Neurology|October 28, 2016
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypesAlessandra Torraco, Anna Ardissone, Federica Invernizzi, et al.
Iscience|February 21, 2024
Fat-to-blood recirculation of partially dysfunctional PD-1<sup>+</sup>CD4 Tconv cells is associated with dysglycemia in human obesityAnna Giovenzana, Eugenia Bezzecchi, Anita Bichisecchi, et al.
Human Mutation|March 14, 2021
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestationAlessandra Torraco, Alessia Nasca, Daniela Verrigni, et al.
Biochemical and Biophysical Research Communications|January 13, 2009
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6Natalia Cannelli, Barbara Garavaglia, Alessandro Simonati, et al.
Brain Communications|December 9, 2022
Adult-onset KMT2B-related dystoniaEdoardo Monfrini, Andrea Ciolfi, Francesco Cavallieri, et al.
Human Mutation|August 10, 2013
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeastEnrico Baruffini, Cristina Dallabona, Federica Invernizzi, et al.
Pageof 12