תוצאות חיפוש - Signorini, Sabrina
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A Multidimensional, Multisensory and Comprehensive Rehabilitation Intervention to Improve Spatial Functioning in the Visually Impaired Child: A Community Case Study מאת Morelli, Federica, Aprile, Giorgia, Cappagli, Giulia, Luparia, Antonella, Decortes, Francesco, Gori, Monica, Signorini, Sabrina
יצא לאור 2020Text -
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Visual Function Score: A New Clinical Tool to Assess Visual Function and Detect Visual Disorders in Children מאת Signorini, Sabrina, Luparia, Antonella, Cappagli, Giulia, Perotto, Eleonora, Antonini, Mauro, Morelli, Federica, Aprile, Giorgia, Ballante, Elena, Figini, Silvia, Borgatti, Renato
יצא לאור 2022Text -
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Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment מאת Ruberto, Giulio, Parisi, Vincenzo, Bertone, Chiara, Signorini, Sabrina, Antonini, Mauro, Valente, Enza Maria, Manzoni, Federica, Serpieri, Valentina, Fausto, Riccardo, Quaranta, Luciano
יצא לאור 2020Text -
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Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways’ Function מאת Ruberto, Giulio, Parisi, Vincenzo, Bertone, Chiara, Signorini, Sabrina, Antonini, Mauro, Valente, Enza Maria, Manzoni, Federica, Serpieri, Valentina, Fausto, Riccardo, Quaranta, Luciano
יצא לאור 2020Text -
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New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review מאת Pichiecchio, Anna, Vitale, Giovanni, Caporali, Camilla, Parazzini, Cecilia, Milani, Donatella, Recalcati, Maria Paola, D’Amico, Laura, Signorini, Sabrina, Balottin, Umberto, Bastianello, Stefano
יצא לאור 2018Text -
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Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study מאת Testa, Francesco, Sodi, Andrea, Signorini, Sabrina, Di Iorio, Valentina, Murro, Vittoria, Brunetti-Pierri, Raffaella, Valente, Enza Maria, Karali, Marianthi, Melillo, Paolo, Banfi, Sandro, Simonelli, Francesca
יצא לאור 2021Text -
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Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders מאת Romaniello, Romina, Pasca, Ludovica, Panzeri, Elena, D’Abrusco, Fulvio, Travaglini, Lorena, Serpieri, Valentina, Signorini, Sabrina, Aiello, Chiara, Bertini, Enrico, Bassi, Maria Teresa, Valente, Enza Maria, Zanni, Ginevra, Borgatti, Renato, Arrigoni, Filippo
יצא לאור 2022Text -
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Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients מאת Gargiulo, Annagiusi, Testa, Francesco, Rossi, Settimio, Di Iorio, Valentina, Fecarotta, Simona, de Berardinis, Teresa, Iovine, Antonello, Magli, Adriano, Signorini, Sabrina, Fazzi, Elisa, Galantuomo, Maria Silvana, Fossarello, Maurizio, Montefusco, Sandro, Ciccodicola, Alfredo, Neri, Alberto, Macaluso, Claudio, Simonelli, Francesca, Surace, Enrico Maria
יצא לאור 2011Text -
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Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome מאת Nuovo, Sara, Fuiano, Laura, Micalizzi, Alessia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Caridi, Gianluca, D’Arrigo, Stefano, Fazzi, Elisa, Fischetto, Rita, Ghiggeri, Gian Marco, Giordano, Lucio, Leuzzi, Vincenzo, Romaniello, Romina, Signorini, Sabrina, Stringini, Gilda, Zanni, Ginevra, Romani, Marta, Valente, Enza Maria, Emma, Francesco
יצא לאור 2020Text -
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MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement מאת Brancati, Francesco, Iannicelli, Miriam, Travaglini, Lorena, Mazzotta, Annalisa, Bertini, Enrico, Boltshauser, Eugen, D’Arrigo, Stefano, Emma, Francesco, Fazzi, Elisa, Gallizzi, Romina, Gentile, Mattia, Loncarevic, Damir, Mejaski-Bosnjak, Vlatka, Pantaleoni, Chiara, Rigoli, Luciana, Salpietro, Carmelo D., Signorini, Sabrina, Stringini, Gilda Rita, Verloes, Alain, Zabloka, Dominika, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria
יצא לאור 2009Text -
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RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study מאת Testa, Francesco, Murro, Vittoria, Signorini, Sabrina, Colombo, Leonardo, Iarossi, Giancarlo, Parmeggiani, Francesco, Falsini, Benedetto, Salvetti, Anna Paola, Brunetti-Pierri, Raffaella, Aprile, Giorgia, Bertone, Chiara, Suppiej, Agnese, Romano, Francesco, Karali, Marianthi, Donati, Simone, Melillo, Paolo, Sodi, Andrea, Quaranta, Luciano, Rossetti, Luca, Buzzonetti, Luca, Chizzolini, Marzio, Rizzo, Stanislao, Staurenghi, Giovanni, Banfi, Sandro, Azzolini, Claudio, Simonelli, Francesca
יצא לאור 2022Text -
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders מאת Travaglini, Lorena, Brancati, Francesco, Silhavy, Jennifer, Iannicelli, Miriam, Nickerson, Elizabeth, Elkhartoufi, Nadia, Scott, Eric, Spencer, Emily, Gabriel, Stacey, Thomas, Sophie, Ben-Zeev, Bruria, Bertini, Enrico, Boltshauser, Eugen, Chaouch, Malika, Roberta Cilio, Maria, de Jong, Mirjam M, Kayserili, Hulya, Ogur, Gonul, Poretti, Andrea, Signorini, Sabrina, Uziel, Graziella, Zaki, Maha S, Johnson, Colin, Attié-Bitach, Tania, Gleeson, Joseph G, Valente, Enza Maria
יצא לאור 2013Text