The metabolic screening today

por Sorge, Giovanni
Publicado 2014

Epilepsy and chromosomal abnormalities

por Sorge, Giovanni, Sorge, Anna
Publicado 2010

Epilepsy in patients with Angelman syndrome

por Fiumara, Agata, Pittalà, Annarita, Cocuzza, Mariadonatella, Sorge, Giovanni
Publicado 2010

Nonconvulsive Status Epilepticus Complicating Epstein-Barr Virus Encephalitis in a Child

por Greco, Filippo, Cocuzza, Maria Donatella, Smilari, Pierluigi, Sorge, Giovanni, Pavone, Lorenzo
Publicado 2014

Quantitative analysis of upright standing in adults with late-onset Pompe disease

por Valle, Maria Stella, Casabona, Antonino, Fiumara, Agata, Castiglione, Dora, Sorge, Giovanni, Cioni, Matteo
Publicado 2016

Erythema Nodosum and Mycoplasma pneumoniae Infections in Childhood: Further Observations in Two Patients and a Literature Review

por Greco, Filippo, Catania, Roberta, Pira, Alice Le, Saporito, Marco, Scalora, Luisa, Aguglia, Maria Giovanna, Smilari, Pierluigi, Sorge, Giovanni
Publicado 2015

Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily

por Messina, MariaAnna, Meli, Concetta, Raudino, Federica, Pittalá, Annarita, Arena, Alessia, Barone, Rita, Giuffrida, Fortunata, Iacobacci, Riccardo, Muccilli, Vera, Sorge, Giovanni, Fiumara, Agata
Publicado 2018

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

por Fichera, Marco, Barone, Rita, Grillo, Lucia, De Grandi, Mariaclara, Fiore, Valerio, Morana, Ignazio, Maniscalchi, Tiziana, Vinci, Mirella, Amata, Silvestra, Spalletta, Angela, Sorge, Giovanni, Signorelli, Salvatore Santo
Publicado 2014

Imaging findings of mucopolysaccharidoses: a pictorial review

por Palmucci, Stefano, Attinà, Giancarlo, Lanza, Maria Letizia, Belfiore, Giuseppe, Cappello, Giuseppina, Foti, Pietro Valerio, Milone, Pietro, Di Bella, Domenico, Barone, Rita, Fiumara, Agata, Sorge, Giovanni, Ettorre, Giovanni Carlo
Publicado 2013

Prevalence of Anti–Adeno-Associated Virus Serotype 8 Neutralizing Antibodies and Arylsulfatase B Cross-Reactive Immunologic Material in Mucopolysaccharidosis VI Patient Candidates...

por Ferla, Rita, Claudiani, Pamela, Savarese, Marco, Kozarsky, Karen, Parini, Rossella, Scarpa, Maurizio, Donati, Maria Alice, Sorge, Giovanni, Hopwood, John J., Parenti, Giancarlo, Fecarotta, Simona, Nigro, Vincenzo, Sivri, Hatice Serap, Van Der Ploeg, Ans, Andria, Generoso, Brunetti-Pierri, Nicola, Auricchio, Alberto
Publicado 2015

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

por Russo, Silvia, Calzari, Luciano, Mussa, Alessandro, Mainini, Ester, Cassina, Matteo, Di Candia, Stefania, Clementi, Maurizio, Guzzetti, Sara, Tabano, Silvia, Miozzo, Monica, Sirchia, Silvia, Finelli, Palma, Prontera, Paolo, Maitz, Silvia, Sorge, Giovanni, Calcagno, Annalisa, Maghnie, Mohamad, Divizia, Maria Teresa, Melis, Daniela, Manfredini, Emanuela, Ferrero, Giovanni Battista, Pecile, Vanna, Larizza, Lidia
Publicado 2016

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

por Russo, Silvia, Calzari, Luciano, Mussa, Alessandro, Mainini, Ester, Cassina, Matteo, Di Candia, Stefania, Clementi, Maurizio, Guzzetti, Sara, Tabano, Silvia, Miozzo, Monica, Sirchia, Silvia, Finelli, Palma, Prontera, Paolo, Maitz, Silvia, Sorge, Giovanni, Calcagno, Annalisa, Maghnie, Mohamad, Divizia, Maria Teresa, Melis, Daniela, Manfredini, Emanuela, Ferrero, Giovanni Battista, Pecile, Vanna, Larizza, Lidia
Publicado 2016

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

por Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R
Publicado 2017