Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype
Cordelli, Duccio Maria, Garavelli, Livia, Savasta, Salvatore, Guerra, Azzurra, Pellicciari, Alessandro, Giordano, Lucio, Bonetti, Silvia, Cecconi, Ilaria, Wischmeijer, Anita, Seri, Marco, Rosato, Simonetta, Gelmini, Chiara, Della Giustina, Elvio, Ferrari, Anna Rita, Zanotta, Nicoletta, Epifanio, Roberta, Grioni, Daniele, Malbora, Baris, Mammi, Isabella, Mari, Francesca, Buoni, Sabrina, Mostardini, Rosa, Grosso, Salvatore, Pantaleoni, Chiara, Doz, Morena, Poch-Olivé, Maria Luisa, Rivieri, Francesca, Sorge, Giovanni, Simonte, Graziella, Licata, Francesca, Tarani, Luigi, Terazzi, Emanuela, Mazzanti, Laura, Cerruti Mainardi, Paola, Boni, Antonella, Faravelli, Francesca, Grasso, Marina, Bianchi, Paolo, Zollino, Marcella, Franzoni, Emilio
Published in American journal of medical genetics. Part A (01.02.2013)
Published in American journal of medical genetics. Part A (01.02.2013)
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Journal Article
Creation and validation of an instrument to quantify attitudes, knowledge and difficulties in the approach to social problems
Jiménez-Alés, Rafael, Páez-González, Raquel, de la Torre-Quiralte, María Llanos, Poch-Olivé, María Luisa, Boukichou-Abdelkader, Nisa, Andrés Esteban, Eva María
Published in Anales de Pediatría (01.06.2023)
Published in Anales de Pediatría (01.06.2023)
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Creación y validación de un instrumento para cuantificar actitudes, conocimientos y dificultades en el abordaje de los problemas sociales
Jiménez-Alés, Rafael, Páez-González, Raquel, de la Torre-Quiralte, María Llanos, Poch-Olivé, María Luisa, Boukichou-Abdelkader, Nisa, Andrés Esteban, Eva María
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.06.2023)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.06.2023)
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Journal Article
Creation and validation of an instrument to quantify attitudes, knowledge and difficulties in the approach to social problems
Rafael Jiménez-Alés, Raquel Páez-González, María Llanos de la Torre-Quiralte, María Luisa Poch-Olivé, Nisa Boukichou-Abdelkader, Eva María Andrés Esteban
Published in Anales de Pediatría (01.06.2023)
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Published in Anales de Pediatría (01.06.2023)
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Early development of executive functions: A differential study
Sastre i Riba, Sylvia, Fonseca-Pedrero, Eduardo, Poch-Olivé, María Luisa
Published in Anales de psicología (Murcia, Spain) (01.05.2015)
Published in Anales de psicología (Murcia, Spain) (01.05.2015)
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Journal Article
Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients
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
Published in Genetics in medicine (01.06.2017)
Published in Genetics in medicine (01.06.2017)
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Journal Article
Mowat-Wilson syndrome: growth charts
Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P, Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Di Pisa, Veronica, Dupont Garcia, Juliette, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Maller, Rikke S, Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marín Reina, Purificación, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Schrier Vergano, Samantha, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Giorgi Rossi, Paolo, Garavelli, Livia
Published in Orphanet journal of rare diseases (15.06.2020)
Published in Orphanet journal of rare diseases (15.06.2020)
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Journal Article
A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency
Cervera-Acedo, Cristina, Lopez, Maria, Aguirre-Lamban, Jana, Santibañez, Paula, Garcia-Oguiza, Alberto, Poch-Olive, Maria Luisa, Dominguez-Garrido, Elena
Published in Human genome variation (29.10.2015)
Published in Human genome variation (29.10.2015)
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Journal Article
Mowat-Wilson Syndrome: Growth Charts
Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi Patrizia, Adam, Margaret P, Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Veronica Di Pisa, Juliette Dupont Garcia, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Jens Erik Klint Nielsen, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Møller, Rikke S, Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marin Reina Purificacion, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Samantha Schrier Vergano, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Paolo Giorgi Rossi, Garavelli, Livia
Published in Orphanet Journal of Rare Diseases (19.05.2020)
Published in Orphanet Journal of Rare Diseases (19.05.2020)
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