Underground Hydrogen Storage in Depleted Gas Reservoirs: Opportunity Identification and Project Maturation Steps von Chiara Tritto, Michela De Simoni, Ernesto Roccaro, Marco Pontiggia, Paola Panfili, Lucilla Del Gaudio, Luca Visconti, Vanessa S. Iorio, Gianluca Dell'Elce

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Expanding phenotype of FAM111B‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym von Macchiaiolo, Marina, Panfili, Filippo M., Vecchio, Davide, Cortellessa, Fabiana, Gonfiantini, Michaela V., Buonuomo, Paola S., Pietrobattista, Andrea, Francalanci, Paola, Travaglini, Lorena, Bertini, Enrico S., El Hachem, Maya, Bartuli, Andrea

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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... von Panfili, Filippo Maria, Valente, Paola, Ficari, Andrea, Cortellessa, Fabiana, Vecchio, Davide, Gonfiantini, Michaela Veronika, Buonuomo, Paola Sabrina, Colafati, Giovanna Stefania, Agolini, Emanuele, Bartuli, Maria, Modugno, Alessandra Claudia, Macchiaiolo, Marina

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

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Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-G... von Concolino, Paola, De Paolis, Elisa, Rinelli, Martina, Maneri, Giulia, Brisighelli, Francesca, Trozzi, Rita, Duranti, Simona, Giacò, Luciano, Piane, Maria, Preziosi, Alessia, Panfili, Arianna, Scambia, Giovanni, Nero, Camilla, De Bonis, Maria, Minucci, Angelo

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Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysis von Vecchio, Davide, Macchiaiolo, Marina, Gonfiantini, Michaela V, Panfili, Filippo M, Petrizzelli, Francesco, Liorni, Niccolò, Cortellessa, Fabiana, Sinibaldi, Lorenzo, Rana, Ippolita, Agolini, Emanuele, Cocciadiferro, Dario, Colantoni, Nicole, Semeraro, Michela, Rizzo, Cristiano, Deodati, Annalisa, Cotugno, Nicola, Caggiano, Serena, Verrillo, Elisabetta, Nucci, Carlotta G, Alkan, Serpil, Saraiva, Jorge M, De Sá, Joaquim, Almeida, Pedro M, Krishna, Jayanth, Buonuomo, Paola S, Martinelli, Diego, Dionisi Vici, Carlo, Caputo, Viviana, Bartuli, Andrea, Novelli, Antonio, Mazza, Tommaso

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Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care von Baban, Anwar, Parlapiano, Giovanni, Cicenia, Marianna, Armando, Michela, Franceschini, Alessio, Pacifico, Concettina, Panfili, Arianna, Zinzanella, Gaetano, Romanzo, Antonino, Fusco, Adelaide, Caiazza, Martina, Perri, Gianluigi, Galletti, Lorenzo, Digilio, Maria Cristina, Buonuomo, Paola Sabrina, Bartuli, Andrea, Novelli, Antonio, Raponi, Massimiliano, Limongelli, Giuseppe

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Langerhans cell histiocytosis in a young patient with Pitt–Hopkins syndrome von Macchiaiolo, Marina, Panfili, Filippo Maria, Gonfiantini, Michaela Veronika, Mastrogiorgio, Gerarda, Buonuomo, Paola Sabrina, Gaspari, Stefania, Longo, Daniela, Zollino, Marcella, Bartuli, Andrea

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Expanding the novel MAPKAPK5–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up von Vecchio, Davide, Cocciadiferro, Dario, Macchiaiolo, Marina, Gonfiantini, Michaela Veronika, Agolini, Emanuele, Matraxia, Marta, Carboni, Alessia, Coretti, Antonella, Villani, Andrea, Panfili, Filippo Maria, Dentici, Maria Lisa, Buonuomo, Paola Sabrina, Rana, Ippolita, Colafati, Giovanna Stefania, Digilio, Maria Cristina, Novelli, Antonio, Bartuli, Andrea

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Identification of a False-positive Multiplex Ligation-dependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-... von Concolino, Paola, Paolis, Elisa De, Rinelli, Martina, Maneri, Giulia, Brisighelli, Francesca, Trozzi, Rita, Duranti, Simona, Giacò, Luciano, Piane, Maria, Preziosi, Alessia, Panfili, Arianna, Scambia, Giovanni, Nero, Camilla, Bonis, Maria De, Minucci, Angelo

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Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome von Macchiaiolo, Marina, Panfili, Filippo Maria, Gonfiantini, Michaela Veronika, Mastrogiorgio, Gerarda, Buonuomo, Paola Sabrina, Gaspari, Stefania, Longo, Daniela, Zollino, Marcella, Bartuli, Andrea

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