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Irene Bruno

Showing results (51-60 of 62) with videos related to

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American Journal of Medical Genetics. Part A|January 13, 2022
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defectsGerarda Cappuccio, Nicola Brunetti-Pierri, Paul Clift, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|September 25, 2018
Reducing NAFLD-screening time: A comparative study of eight diagnostic methods offering an alternative to ultrasound scansFilippo Procino, Giovanni Misciagna, Nicola Veronese, et al.
Nutrition, Metabolism, and Cardiovascular Diseases : NMCD|August 22, 2020
Remnant cholesterol as a risk factor for cardiovascular, cancer or other causes mortality: A competing risks analysisCaterina Bonfiglio, Carla M Leone, Liciana V A Silveira, et al.
Human Mutation|July 12, 2020
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, et al.
Eclinicalmedicine|December 17, 2024
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016Maria Carmela Pera, Giorgia Coratti, Marika Pane, et al.
European Journal of Neurology|March 7, 2023
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar functionMarika Pane, Giorgia Coratti, Valeria A Sansone, et al.
American Journal of Medical Genetics. Part A|September 13, 2021
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobinCharlotte von der Lippe, Kristian Tveten, Trine E Prescott, et al.
Neurology|December 2, 2022
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide SurveyGiorgia Coratti, Martina Ricci, Anna Capasso, et al.
Frontiers in Neurology|July 2, 2026
Modifying disease registries to address the evolving field in rare diseases: the iSMAc/ITASMAc experience in spinal muscular atrophyGiorgia Coratti, Chiara Bravetti, Gianpaolo Cicala, et al.
European Journal of Pediatrics|December 16, 2024
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide surveyAnna Capasso, Gianpaolo Cicala, Martina Ricci, et al.
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Showing results (51-60 of 62) with videos related to

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Pageof 7
American Journal of Medical Genetics. Part A|January 13, 2022
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defectsGerarda Cappuccio, Nicola Brunetti-Pierri, Paul Clift, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|September 25, 2018
Reducing NAFLD-screening time: A comparative study of eight diagnostic methods offering an alternative to ultrasound scansFilippo Procino, Giovanni Misciagna, Nicola Veronese, et al.
Nutrition, Metabolism, and Cardiovascular Diseases : NMCD|August 22, 2020
Remnant cholesterol as a risk factor for cardiovascular, cancer or other causes mortality: A competing risks analysisCaterina Bonfiglio, Carla M Leone, Liciana V A Silveira, et al.
Human Mutation|July 12, 2020
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, et al.
Eclinicalmedicine|December 17, 2024
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016Maria Carmela Pera, Giorgia Coratti, Marika Pane, et al.
European Journal of Neurology|March 7, 2023
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar functionMarika Pane, Giorgia Coratti, Valeria A Sansone, et al.
American Journal of Medical Genetics. Part A|September 13, 2021
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobinCharlotte von der Lippe, Kristian Tveten, Trine E Prescott, et al.
Neurology|December 2, 2022
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide SurveyGiorgia Coratti, Martina Ricci, Anna Capasso, et al.
Frontiers in Neurology|July 2, 2026
Modifying disease registries to address the evolving field in rare diseases: the iSMAc/ITASMAc experience in spinal muscular atrophyGiorgia Coratti, Chiara Bravetti, Gianpaolo Cicala, et al.
European Journal of Pediatrics|December 16, 2024
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide surveyAnna Capasso, Gianpaolo Cicala, Martina Ricci, et al.
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