Search Results - Roberta Onesimo

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  1. 1

    Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature by Roberta Onesimo, Cristiana Agazzi, Luca Massimi, Valentina Giorgio, Chiara Leoni, Giuseppe Zampino, Claudia Rendeli

    Published in Italian Journal of Pediatrics (2023-07-01)
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  2. 2

    Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics by Federico Calà, Lorenzo Frassineti, Elisabetta Sforza, Roberta Onesimo, Lucia D’Alatri, Claudia Manfredi, Antonio Lanata, Giuseppe Zampino

    Published in Bioengineering (2023-11-01)
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  3. 3

    Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports by Roberta Onesimo, Rita De Santis, Chiara Leoni, Mario Rigante, Marco Piastra, Elisabetta Sforza, Angelo Selicorni, Giuseppe Zampino

    Published in Italian Journal of Pediatrics (2023-07-01)
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  4. 4

    Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome by Domenico M. Romeo, Alessandro Specchia, Alfonso Fasano, Chiara Leoni, Roberta Onesimo, Claudia Brogna, Stefania Veltri, Giuseppe Zampino

    Published in Brain Sciences (2020-07-01)
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  5. 5

    The Impact of Blenderized Tube Feeding on Gastrointestinal Symptoms, a Scoping Review by Elisabetta Sforza, Domenico Limongelli, Valentina Giorgio, Gaia Margiotta, Francesco Proli, Eliza Maria Kuczynska, Chiara Leoni, Donato Rigante, Ilaria Contaldo, Chiara Veredice, Emanuele Rinninella, Antonio Gasbarrini, Giuseppe Zampino, Roberta Onesimo

    Published in Applied Sciences (2023-02-01)
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  6. 6

    Status epilepticus in BRAF‐related cardio‐facio‐cutaneous syndrome: Focus on neuroimaging clues to physiopathology by Elisa Musto, Maria Luigia Gambardella, Marco Perulli, Michela Quintiliani, Chiara Veredice, Tommaso Verdolotti, Giovanna Berté, Chiara Leoni, Roberta Onesimo, Silvia Maria Pulitanò, Marco Tartaglia, Giuseppe Zampino, Ilaria Contaldo, Domenica Immacolata Battaglia

    Published in Epilepsia Open (2024-02-01)
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  7. 7

    Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review by Clelia Cipolla, Linda Sessa, Giulia Rotunno, Giorgio Sodero, Francesco Proli, Chiara Veredice, Valentina Giorgio, Chiara Leoni, Jessica Rosati, Domenico Limongelli, Eliza Kuczynska, Elisabetta Sforza, Valentina Trevisan, Donato Rigante, Giuseppe Zampino, Roberta Onesimo

    Published in Children (2023-08-01)
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  8. 8

    Cross-cultural adaptation of the Italian version of the “Child and Youth Mental Health Instrument for Developmental Disabilities” (I-ChYMH-DD) by Elisabetta Sforza, Chiara Leoni, Elena De Rosa, Jacopo Bellani, Germana Viscogliosi, Antonella Di Paola, Marta Zampino, Rita Fischetto, Marika Pane, Donato Rigante, Serenella Servidei, Guido Primiano, Roberta Onesimo, Angelo Carfì, Zampino Giuseppe

    Published in Italian Journal of Pediatrics (2026-03-01)
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  9. 9

    Family phenotypic profile in hereditary hemorrhagic telangiectasia: genotype-phenotype correlation in a pediatric Italian population by Valentina Giorgio, Chiara Di Foggia, Giovanna Quatrale, Gaia Margiotta, Giuseppe Stella, Francesco Proli, Chiara Leoni, Roberta Onesimo, Giulio Cesare Passali, Andrea Contegiacomo, Giuseppe Zampino, Emanuela Lucci Cordisco, Elena Sonnini, Antonio Gasbarrini, Eleonora Gaetani

    Published in Italian Journal of Pediatrics (2025-09-01)
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  10. 10

    Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region by Angela Maria Giada Giovenale, Elisa Maria Turco, Martina Mazzoni, Ilaria Ferrone, Barbara Torres, Laura Bernardini, Edvige Vulcano, Daniela Ferrari, Roberta Onesimo, Stefano D’Arrigo, Giuseppe Zampino, Maria Pennuto, Alessandro De Luca, Angelo Luigi Vescovi, Jessica Rosati

    Published in Stem Cell Research (2024-12-01)
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  11. 11

    Oral and Swallowing Abilities Tool (OrSAT) in Individuals with Type I SMA Older than 24 Months: A Pilot Study by Giulia Stanca, Maria Sframeli, Camilla Verdilio, Beatrice Berti, Lavinia Fanelli, Natalia Longoni, Marisa Maniaci, Giorgia Coratti, Chiara Cutrì, Roberta Onesimo, Concetta Palermo, Daniela Leone, Anna Falco, Giulia Norcia, Valentina Giorgio, Carolina Ausili Cefaro, Antonella Cerchiari, Sonia Messina, Marika Pane, Eugenio Mercuri

    Published in Children (2026-06-01)
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  12. 12

    Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation by Angela Maria Giada Giovenale, Elisa Maria Turco, Ilaria Ferrone, Chiara Giacometti, Silvia Tomaselli, Edvige Vulcano, Daniela Ferrari, Ornella Candido, Laura Bernardini, Alessandro De Luca, Nadia Trivieri, Elena Binda, Roberta Onesimo, Stefano D’Arrigo, Giuseppe Zampino, Maria Pennuto, Angelo Luigi Vescovi, Jessica Diana Rosati

    Published in Stem Cell Research (2025-08-01)
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  13. 13

    Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences by Anna Elsa Maria Allegri, Maria Francesca Bedeschi, Maria Beatrice Bocchi, Valentina Camurri, Michaela Veronika Gonfiantini, Chiara Leoni, Milena Mariani, Osvaldo Palmacci, Matteo Porro, Simone Riganti, Caterina Tedesco, Berardo Rinaldi, Emanuela Scarano, Concetta Schiavariello, Angelo Selicorni, Stefano Stagi, Fabio Verdoni, Giuseppe Zampino, Mohamad Maghnie, Roberta Onesimo

    Published in Orphanet Journal of Rare Diseases (2025-07-01)
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  14. 14

    A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment by Valentina Trevisan, Eugenio De Corso, Germana Viscogliosi, Roberta Onesimo, Alessandro Cina, Marco Panfili, Lucrezia Perri, Cristiana Agazzi, Valentina Giorgio, Donato Rigante, Giovanni Vento, Patrizia Papacci, Filomena Valentina Paradiso, Sara Silvaroli, Lorenzo Nanni, Nicoletta Resta, Marco Castori, Jacopo Galli, Gaetano Paludetti, Giuseppe Zampino, Chiara Leoni

    Published in Orphanet Journal of Rare Diseases (2024-07-01)
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  15. 15

    Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study by Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike

    Published in Orphanet Journal of Rare Diseases (2023-03-01)
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  16. 16

    Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome by Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, Martina Mazzoni, Alessandra Cammareri, Caterina Marchioretti, Laura Goracci, Alessandra Di Veroli, Elena Marchesan, Daniel D’Andrea, Antonella Falconieri, Barbara Torres, Laura Bernardini, Maria Chiara Magnifico, Alessio Paone, Serena Rinaldo, Matteo Della Monica, Stefano D’Arrigo, Diana Postorivo, Anna Maria Nardone, Giuseppe Zampino, Roberta Onesimo, Chiara Leoni, Federico Caicci, Domenico Raimondo, Elena Binda, Laura Trobiani, Antonella De Jaco, Ada Maria Tata, Daniela Ferrari, Francesca Cutruzzolà, Gianluigi Mazzoccoli, Elena Ziviani, Maria Pennuto, Angelo Luigi Vescovi, Jessica Rosati

    Published in Cell Death and Disease (2022-11-01)
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  17. 17

    Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapiesResea... by Marika Pane, Beatrice Berti, Anna Capasso, Giorgia Coratti, Antonio Varone, Adele D’Amico, Sonia Messina, Riccardo Masson, Valeria Ada Sansone, Maria Alice Donati, Caterina Agosto, Claudio Bruno, Federica Ricci, Antonella Pini, Delio Gagliardi, Massimiliano Filosto, Stefania Corti, Daniela Leone, Concetta Palermo, Roberta Onesimo, Roberto De Sanctis, Martina Ricci, Ilaria Bitetti, Maria Sframeli, Claudia Dosi, Emilio Albamonte, Chiara Ticci, Noemi Brolatti, Enrico Bertini, Richard Finkel, Eugenio Mercuri, Maria Carmela Pera, Chiara Bravetti, Marco Piastra, Orazio Genovese, Gianpaolo Cicala, Nicola Forcina, Sara Carnicella, Giulia Stanca, Michele Sacchini, Michela Catteruccia, Michele Tosi, Renato Cutrera, Claudio Chierchi, Maria Beatrice Chiarini, Francesca Salmin, Marina Pedemonte, Alessandra Govoni, Irene Mizzoni, Simone Morando, Riccardo Zanin, Enrica Rolle, Eleonora Salomon, Melania Giannotta, Gaia Scarpini, Antonio Toscano, Eloisa Gitto, Roberto Materia, Rossella D’Alessandro

    Published in EClinicalMedicine (2023-05-01)
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