Search Results - 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 by Morelli, Federica, Aprile, Giorgia, Cappagli, Giulia, Luparia, Antonella, Decortes, Francesco, Gori, Monica, Signorini, Sabrina
Published 2020Text -
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Visual Function and Neuropsychological Profile in Children with Cerebral Visual Impairment by Morelli, Federica, Aprile, Giorgia, Martolini, Chiara, Ballante, Elena, Olivier, Lucrezia, Ercolino, Elisa, Perotto, Eleonora, Signorini, Sabrina
Published 2022Text -
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Visual Function Score: A New Clinical Tool to Assess Visual Function and Detect Visual Disorders in Children by Signorini, Sabrina, Luparia, Antonella, Cappagli, Giulia, Perotto, Eleonora, Antonini, Mauro, Morelli, Federica, Aprile, Giorgia, Ballante, Elena, Figini, Silvia, Borgatti, Renato
Published 2022Text -
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Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment by Ruberto, Giulio, Parisi, Vincenzo, Bertone, Chiara, Signorini, Sabrina, Antonini, Mauro, Valente, Enza Maria, Manzoni, Federica, Serpieri, Valentina, Fausto, Riccardo, Quaranta, Luciano
Published 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 by Ruberto, Giulio, Parisi, Vincenzo, Bertone, Chiara, Signorini, Sabrina, Antonini, Mauro, Valente, Enza Maria, Manzoni, Federica, Serpieri, Valentina, Fausto, Riccardo, Quaranta, Luciano
Published 2020Text -
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New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review by Pichiecchio, Anna, Vitale, Giovanni, Caporali, Camilla, Parazzini, Cecilia, Milani, Donatella, Recalcati, Maria Paola, D’Amico, Laura, Signorini, Sabrina, Balottin, Umberto, Bastianello, Stefano
Published 2018Text -
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Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study by 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
Published 2021Text -
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Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders by 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
Published 2022Text -
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Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients by 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
Published 2011Text -
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Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome by 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
Published 2020Text -
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MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement by 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
Published 2009Text -
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RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study by 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
Published 2022Text -
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders by 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
Published 2013Text