Showing 1 - 7 results of 7 for search 'Emanuele Agolini', query time: 0.06s
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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 2019Connect to this object online.
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2
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 2022Connect to this object online.
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3
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 2024Connect to this object online.
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4
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 2019Connect to this object online.
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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 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 2023Connect to this object online.
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6
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 2024Connect to this object online.
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7
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 2020Connect to this object online.
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