Search Results - Panfili, Filippo Maria

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  1. 1
    Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

    Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study by 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

    Published in Frontiers in genetics
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  2. 2
    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 aesthetic rehabilitation: a case report

    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 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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  3. 3
    The impact of National Containment Measures on a Pediatric Italian regional Hub for COVID-19, an observational study

    The impact of National Containment Measures on a Pediatric Italian regional Hub for COVID-19, an observational study by Crea, Francesca, Panfili, Filippo Maria, Amodeo, Maria Elisa, Fintini, Danilo, Rossi, Francesco Paolo, Trenta, Italo, Menichella, Alessandra, Ossella, Chiara, Deidda, Andrea, Lidano, Roberta, Macchiarulo, Giulia, Lambiase, Caterina, Barbieri, Maria Antonietta, Raponi, Massimiliano

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  4. 4
    Expanding the novel MAPKAPK5–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up

    Expanding the novel MAPKAPK5–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up by 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

    Published in Clinical genetics
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  5. 5
    Langerhans cell histiocytosis in a young patient with Pitt–Hopkins syndrome

    Langerhans cell histiocytosis in a young patient with Pitt–Hopkins syndrome by 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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  6. 6
    Prader–Willi Syndrome in Adults: An Update On Nutritional Treatment and Pharmacological Approach

    Prader–Willi Syndrome in Adults: An Update On Nutritional Treatment and Pharmacological Approach by Barrea, Luigi, Vetrani, Claudia, Fintini, Danilo, de Alteriis, Giulia, Panfili, Filippo Maria, Bocchini, Sarah, Verde, Ludovica, Colao, Annamaria, Savastano, Silvia, Muscogiuri, Giovanna

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  7. 7
    Behavioral profiling in children and adolescents with Malan syndrome

    Behavioral profiling in children and adolescents with Malan syndrome by Alfieri, Paolo, Montanaro, Federica Alice Maria, Macchiaiolo, Marina, Collotta, Martina, Caciolo, Cristina, Galassi, Paolo, Panfili, Filippo Maria, Cortellessa, Fabiana, Zollino, Marcella, Chinali, Marcello, Accadia, Maria, Seri, Marco, Bartuli, Andrea, Mammì, Corrado, Tartaglia, Marco, Vicari, Stefano, Priolo, Manuela

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  8. 8
    Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome

    Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome by Alfieri, Paolo, Macchiaiolo, Marina, Collotta, Martina, Montanaro, Federica Alice Maria, Caciolo, Cristina, Cumbo, Francesca, Galassi, Paolo, Panfili, Filippo Maria, Cortellessa, Fabiana, Zollino, Marcella, Accadia, Maria, Seri, Marco, Tartaglia, Marco, Bartuli, Andrea, Mammì, Corrado, Vicari, Stefano, Priolo, Manuela

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  9. 9
    Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome

    Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome by 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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  10. 10
    A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

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

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  11. 11
    Positive allosteric modulation of indoleamine 2,3- dioxygenase 1 restrains neuroinflammation

    Positive allosteric modulation of indoleamine 2,3- dioxygenase 1 restrains neuroinflammation by Mondanelli, Giada, Coletti, Alice, Greco, Francesco Antonio, Pallotta, Maria Teresa, Orabona, Ciriana, Iacono, Alberta, Belladonna, Maria Laura, Albini, Elisa, Panfili, Eleonora, Fallarino, Francesca, Gargaro, Marco, Manni, Giorgia, Matino, Davide, Carvalho, Agostinho, Cunha, Cristina, Maciel, Patricia, Di Filippo, Massimiliano, Gaetani, Lorenzo, Bianchi, Roberta, Vacca, Carmine, Iamandii, Ioana Maria, Proietti, Elisa, Boscia, Francesca, Annunziato, Lucio, Peppelenbosch, Maikel, Puccetti, Paolo, Calabresi, Paolo, Macchiarulo, Antonio, Santambrogio, Laura, Volpi, Claudia, Grohmann, Ursula

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