Search Results - Paola Panfili

  • Showing 1 - 11 results of 11
Refine Results
  1. 1
    Underground Hydrogen Storage in Depleted Gas Reservoirs: Opportunity Identification and Project Maturation Steps

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

    Get full text
    Article
    Save to List
    Saved in:
  2. 2
    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

    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 by 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

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  3. 3
    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

    Get full text
    Items that this one cites
    Article
    Save to List
    Saved in:
  4. 4
    Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysis

    Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysis by 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

    Published in Frontiers in genetics
    Get full text
    Items that this one cites
    Article
    Save to List
    Saved in:
  5. 5
    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
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  6. 6
    Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay

    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... by 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

    Get full text
    Items that this one cites
    Article
    Save to List
    Saved in:
  7. 7
    Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care

    Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care by 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

    Get full text
    Items that this one cites
    Article
    Save to List
    Saved in:
  8. 8
    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

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  9. 9
    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
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  10. 10
    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-Generation Sequencing-based Homologous Recombination Deficiency Assay

    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-... by 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

    Get full text
    Article
    Save to List
    Saved in:
  11. 11
    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

    Get full text
    Report
    Save to List
    Saved in:

Search Tools: