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

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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

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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

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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

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Basedow-Graves’ disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment by Roberta Onesimo, Cristina De Rose, Clelia Cipolla, Silvia Della Casa, Chiara Leoni, Annabella Salerni, Daniela Ricci, Giuseppe Zampino

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Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet by Valentina Giorgio, Gaia Margiotta, Giuseppe Stella, Federica Di Cicco, Chiara Leoni, Francesco Proli, Giuseppe Zampino, Antonio Gasbarrini, Roberta Onesimo

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Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status by Chiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, Mariangela Di Già, Roberta Onesimo, Valentina Giorgio, Elisabetta Flex, Marta Tedesco, Marco Tartaglia, Donato Rigante, Antonio Valassina, Giuseppe Zampino

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Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation by Roberta Onesimo, Daniela Ricci, Cristiana Agazzi, Simona Leone, Maria Petrianni, Lorenzo Orazi, Filippo Amore, Annabella Salerni, Chiara Leoni, Daniela Chieffo, Marco Tartaglia, Eugenio Mercuri, Giuseppe Zampino

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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

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Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review by Flaminia Pugnaloni, Roberta Onesimo, Rita Blandino, Carolina Putotto, Paolo Versacci, Angelica Bibiana Delogu, Chiara Leoni, Valentina Trevisan, Ileana Croci, Federica Calì, Maria Cristina Digilio, Giuseppe Zampino, Bruno Marino, Giulio Calcagni

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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

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The “FEEDS (FEeding Eating Deglutition Skills)” over Time Study in Cardiofaciocutaneous Syndrome by Roberta Onesimo, Elisabetta Sforza, Valentina Giorgio, Germana Viscogliosi, Eliza Maria Kuczynska, Gaia Margiotta, Lucrezia Perri, Domenico Limongelli, Francesco Proli, Cristina De Rose, Donato Rigante, Antonella Cerchiari, Marco Tartaglia, Chiara Leoni, Giuseppe Zampino

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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

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Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature by Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo

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Epilepsy and <i>BRAF</i> Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations by Domenica I. Battaglia, Maria Luigia Gambardella, Stefania Veltri, Ilaria Contaldo, Giovanni Chillemi, Chiara Veredice, Michela Quintiliani, Chiara Leoni, Roberta Onesimo, Tommaso Verdolotti, Francesca Clementina Radio, Diego Martinelli, Marina Trivisano, Nicola Specchio, Charlotte Dravet, Marco Tartaglia, Giuseppe Zampino

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What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review by Elisabetta Sforza, Gaia Margiotta, Valentina Giorgio, Domenico Limongelli, Francesco Proli, Eliza Maria Kuczynska, Chiara Leoni, Cristina De Rose, Valentina Trevisan, Domenico Marco Romeo, Rosalinda Calandrelli, Eugenio De Corso, Luca Massimi, Osvaldo Palmacci, Donato Rigante, Giuseppe Zampino, Roberta Onesimo

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From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome by Roberta Onesimo, Elisabetta Sforza, Valentina Trevisan, Chiara Leoni, Valentina Giorgio, Donato Rigante, Eliza Maria Kuczynska, Francesco Proli, Cristiana Agazzi, Domenico Limongelli, Maria Cistina Digilio, Maria Lisa Dentici, Maria Macchiaiolo, Antonio Novelli, Andrea Bartuli, Lorenzo Sinibaldi, Marco Tartaglia, Giuseppe Zampino

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Contactless: a new personalised telehealth model in chronic pediatric diseases and disability during the COVID-19 era by Eugenio Mercuri, Giuseppe Zampino, Alisha Morsella, Marika Pane, Roberta Onesimo, Carmen Angioletti, Piero Valentini, Claudia Rendeli, Antonio Ruggiero, Lorenzo Nanni, Antonio Chiaretti, Giovanni Vento, David Korn, Emilio Meneschincheri, Paolo Sergi, Giovanni Scambia, Walter Ricciardi, Andrea Cambieri, Antonio Giulio De Belvis

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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

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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

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