Showing 1 - 7 results of 7 for search 'Emanuele Agolini', query time: 0.06s Refine Results
  1. 1
    Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease

    Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease by Maria Giovanna Paglietti, Claudio Cherchi, Federica Porcaro, Emanuele Agolini, Alessandra Schiavino, Francesca Petreschi, Antonio Novelli, Renato Cutrera

    Published 2019
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  2. 2
    De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review

    De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review by Maria Anna Siano, Ilaria De Maggio, Roberta Petillo, Dario Cocciadiferro, Emanuele Agolini, Massimo Majolo, Antonio Novelli, Matteo Della Monica, Carmelo Piscopo

    Published 2022
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  3. 3
    Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

    Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A by Fabio Sippelli, Silvana Briuglia, Chiara Ferraloro, Anna Paola Capra, Emanuele Agolini, Tiziana Abbate, Giorgia Pepe, Tommaso Aversa, Malgorzata Wasniewska, Domenico Corica

    Published 2024
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  4. 4
    Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

    Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review by Gloria Pelizzo, Mirella Collura, Aurora Puglisi, Maria Pia Pappalardo, Emanuele Agolini, Antonio Novelli, Maria Piccione, Caterina Cacace, Rossana Bussani, Giovanni Corsello, Valeria Calcaterra

    Published 2019
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  5. 5
    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 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

    Published 2023
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  6. 6
    Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants-differential diagnosis and recommendation for biochemical and genetic screening

    Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants-differential diagnosis and recommendation for biochemical and genetic screening by Rosalinda Giannini, Emanuele Agolini, Giuseppe Palumbo, Giuseppe Palumbo, Antonio Novelli, Giacomo Garone, Giacomo Garone, Melissa Grasso, Giovanna Stefania Colafati, Marta Matraxia, Eleonora Piccirilli, Annalisa Deodati, Annalisa Deodati, Giulia Ceglie, Giulia Ceglie

    Published 2024
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  7. 7
    Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas

    Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas by Giulia Ceglie, Giada Del Baldo, Emanuele Agolini, Martina Rinelli, Antonella Cacchione, Francesca Del Bufalo, Maria Vinci, Roberto Carta, Luigi Boccuto, Luigi Boccuto, Evelina Miele, Angela Mastronuzzi, Franco Locatelli, Franco Locatelli, Andrea Carai

    Published 2020
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