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