Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsi... by Filippo M. Panfili, Andrea Pietrobattista, Davide Vecchio, Michaela V. Gonfiantini, Andrea Bartuli, Marina Macchiaiolo

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Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency by Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi, Marco Tartaglia, Andrea Bartuli

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Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aest... by Filippo Maria Panfili, Paola Valente, Andrea Ficari, Fabiana Cortellessa, Davide Vecchio, Michaela Veronika Gonfiantini, Paola Sabrina Buonuomo, Giovanna Stefania Colafati, Emanuele Agolini, Maria Bartuli, Alessandra Claudia Modugno, Marina Macchiaiolo

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Management of pediatric post-infectious neurological syndromes by Elena Bozzola, Giulia Spina, Massimiliano Valeriani, Laura Papetti, Fabiana Ursitti, Rino Agostiniani, Cristina Mascolo, Margherita Ruggiero, Chiara Di Camillo, Anna Quondamcarlo, Luigi Matera, Davide Vecchio, Luigi Memo, Alberto Villani

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Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion by Manuela Lo Bianco, Davide Vecchio, Tiziana A. Timpanaro, Alessia Arena, Marina Macchiaiolo, Andrea Bartuli, Laura Sciuto, Santiago Presti, Sarah Sciuto, Annamaria Sapuppo, Agata Fiumara, Lidia Marino, Giulia Messina, Piero Pavone

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A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report by Marina Macchiaiolo, Filippo M. Panfili, Davide Vecchio, Michaela V. Gonfiantini, Fabiana Cortellessa, Cristina Caciolo, Marcella Zollino, Maria Accadia, Marco Seri, Marcello Chinali, Corrado Mammì, Marco Tartaglia, Andrea Bartuli, Paolo Alfieri, Manuela Priolo

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Media use during adolescence: the recommendations of the Italian Pediatric Society by Elena Bozzola, Giulia Spina, Margherita Ruggiero, Davide Vecchio, Cinthia Caruso, Mauro Bozzola, Anna Maria Staiano, Rino Agostiniani, Antonello Del Vecchio, Giuseppe Banderali, Diego Peroni, Alberto Chiara, Luigi Memo, Renato Turra, Giovanni Corsello, Alberto Villani

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Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study by Dario Cocciadiferro, Tommaso Mazza, Davide Vecchio, Tommaso Biagini, Francesco Petrizzelli, Emanuele Agolini, Andrea Villani, Andrea Villani, Daniele Minervino, Diego Martinelli, Cristiano Rizzo, Sara Boenzi, Filippo Maria Panfili, Paola Sabrina Buonuomo, Marina Macchiaiolo, Andrea Bartuli, Antonio Novelli

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Stimulation of Treg Cells to Inhibit Osteoclastogenesis in Gorham-Stout Disease by Michela Rossi, Ippolita Rana, Paola Sabrina Buonuomo, Giulia Battafarano, Viviana De Martino, Matteo D’Agostini, Ottavia Porzio, Ottavia Porzio, Cristiana Cipriani, Salvatore Minisola, Rita De Vito, Davide Vecchio, Michaela Veronika Gonfiantini, Alessandro Jenkner, Andrea Bartuli, Andrea Del Fattore

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Italian consensus on the therapeutic management of uncomplicated acute hematogenous osteomyelitis in children by Andrzej Krzysztofiak, Elena Chiappini, Elisabetta Venturini, Livia Gargiullo, Marco Roversi, Carlotta Montagnani, Elena Bozzola, Sara Chiurchiu, Davide Vecchio, Elio Castagnola, Paolo Tomà, Gian Maria Rossolini, Renato Maria Toniolo, Susanna Esposito, Marco Cirillo, Fabio Cardinale, Andrea Novelli, Giovanni Beltrami, Claudia Tagliabue, Silvio Boero, Daniele Deriu, Sonia Bianchini, Annalisa Grandin, Samantha Bosis, Martina Ciarcià, Daniele Ciofi, Chiara Tersigni, Barbara Bortone, Giulia Trippella, Giangiacomo Nicolini, Andrea Lo Vecchio, Antonietta Giannattasio, Paola Musso, Elena Serrano, Paola Marchisio, Daniele Donà, Silvia Garazzino, Luca Pierantoni, Teresa Mazzone, Paola Bernaschi, Alessandra Ferrari, Guido Castelli Gattinara, Luisa Galli, Alberto Villani

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Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders by Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler

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