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Roberta Onesimo

Showing results (91-100 of 111) with videos related to

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European Journal of Pediatrics|January 20, 2022
Body mass index in type 2 spinal muscular atrophy: a longitudinal studyGloria Ferrantini, Giorgia Coratti, Roberta Onesimo, et al.
European Journal of Pediatrics|August 29, 2024
Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort studyMarika Pane, Giulia Stanca, Giorgia Coratti, et al.
Clinical Genetics|July 17, 2023
Congenital heart defects in CTNNB1 syndrome: Raising clinical awarenessLorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, et al.
European Journal of Human Genetics : EJHG|February 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variantsAlessandro Bruselles, Cecilia Mancini, Luigi Chiriatti, et al.
Human Molecular Genetics|March 29, 2022
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndromeMarialetizia Motta, Maja Solman, Adeline A Bonnard, et al.
Orphanet Journal of Rare Diseases|March 16, 2023
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational studyMohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, et al.
European Journal of Pediatrics|April 18, 2024
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?Marika Pane, Giulia Stanca, Chiara Ticci, et al.
Eclinicalmedicine|May 17, 2023
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapiesMarika Pane, Beatrice Berti, Anna Capasso, et al.
The Pediatric Infectious Disease Journal|November 11, 2025
Necrotizing Pneumonia in Critically Ill Infants and Children: Predictive Factors for Critical Care RequirementMarco Piastra, Ivonne Portaccio, Geremia Zito Marinosci, et al.
American Journal of Human Genetics|November 13, 2020
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal NeurodevelopmentCatherine Rodger, Elisabetta Flex, Rachel J Allison, et al.
Pageof 12

Showing results (91-100 of 111) with videos related to

Sort By:
Pageof 12
European Journal of Pediatrics|January 20, 2022
Body mass index in type 2 spinal muscular atrophy: a longitudinal studyGloria Ferrantini, Giorgia Coratti, Roberta Onesimo, et al.
European Journal of Pediatrics|August 29, 2024
Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort studyMarika Pane, Giulia Stanca, Giorgia Coratti, et al.
Clinical Genetics|July 17, 2023
Congenital heart defects in CTNNB1 syndrome: Raising clinical awarenessLorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, et al.
European Journal of Human Genetics : EJHG|February 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variantsAlessandro Bruselles, Cecilia Mancini, Luigi Chiriatti, et al.
Human Molecular Genetics|March 29, 2022
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndromeMarialetizia Motta, Maja Solman, Adeline A Bonnard, et al.
Orphanet Journal of Rare Diseases|March 16, 2023
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational studyMohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, et al.
European Journal of Pediatrics|April 18, 2024
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?Marika Pane, Giulia Stanca, Chiara Ticci, et al.
Eclinicalmedicine|May 17, 2023
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapiesMarika Pane, Beatrice Berti, Anna Capasso, et al.
The Pediatric Infectious Disease Journal|November 11, 2025
Necrotizing Pneumonia in Critically Ill Infants and Children: Predictive Factors for Critical Care RequirementMarco Piastra, Ivonne Portaccio, Geremia Zito Marinosci, et al.
American Journal of Human Genetics|November 13, 2020
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal NeurodevelopmentCatherine Rodger, Elisabetta Flex, Rachel J Allison, et al.
Pageof 12