نتائج البحث - Sabrina Signorini
- يعرض 1 - 15 نتائج من 15
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Inflammatory biomarkers in depression: scoping review حسب Walter Paganin, Sabrina Signorini
منشور في 2024Artigo -
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Neuro‐ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects حسب Elisa Fazzi, Sabrina Signorini, Roberta La Piana, Chiara Bertone, WALTER MISEFARI, Jessica Galli, Umberto Balottin, Paolo Emilio Bianchi
منشور في 2012Artigo -
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Socio-emotional stress regulation in infants with visual impairment: Exploring the role of maternal vocal and tactile behavior حسب Serena Grumi, Elena Capelli, Livio Provenzi, Federica Morelli, Beatrice Riva, Laura Carraro, Chiara Ghiberti, Antonella Luparia, Sabrina Signorini
منشور في 2025Artigo -
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Septo‐optic dysplasia in childhood: the neurological, cognitive and neuro‐ophthalmological perspective حسب Sabrina Signorini, Alice Decio, Cristina Fedeli, Antonella Luparia, Mauro Antonini, Chiara Bertone, WALTER MISEFARI, Giulio Ruberto, Paolo Emilio Bianchi, Umberto Balottin
منشور في 2012Artigo -
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Visual Function Classification System for children with cerebral palsy: development and validation حسب Giovanni Baranello, Sabrina Signorini, Francesca Tinelli, Andrea Guzzetta, Emanuela Pagliano, Andrea Rossi, Maria Foscan, Irene Tramacere, Domenico M. Romeo, Daniela Ricci
منشور في 2019Artigo -
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Autonomy in children and adolescents with visual impairment: Validation of the Visual Impairment Developmental Autonomy scale حسب Federica Morelli, Serena Grumi, G. Catalano, Ilaria Scognamillo, Maria Eleonora Reffo, Roberta Zumiani, Sandra Strazzer, Elena Cocchi, Livio Provenzi, Sabrina Signorini
منشور في 2025Artigo -
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A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice حسب Vittoria Murro, Sandro Banfi, Francesco Testa, Giancarlo Iarossi, Benedetto Falsini, Andrea Sodi, Sabrina Signorini, Achille Iolascon, Roberta Russo, Dario Pasquale Mucciolo, Roberto Caputo, Giacomo Maria Bacci, Sara Bargiacchi, Simona Turco, Stefania Fortini, Francesca Simonelli
منشور في 2023Revisão -
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Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients حسب Annagiusi Gargiulo, Francesco Testa, Settimio Rossi, Valentina Di Iorio, Simona Fecarotta, Teresa de Berardinis, Antonello Iovine, Adriano Magli, Sabrina Signorini, Elisa Fazzi, Maria Silvana Galantuomo, Maurizio Fossarello, Sandro Montefusco, Alfredo Ciccodicola, Alberto Neri, Claudio Macaluso, Francesca Simonelli, Enrico Maria Surace
منشور في 2010Artigo -
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<i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement حسب Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D’Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi, Mattia Gentile, Damir Lončarević, Vlatka Mejaški‐Bošnjak, Chiara Pantaleoni, Luciana Rigoli, Carmelo Salpietro, Sabrina Signorini, Gilda Stringini, Alain Verloès, Dominika Zabloka, Bruno Dallapiccola, Joseph G. Gleeson, Enza Maria Valente
منشور في 2008Artigo -
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders حسب Lorena Travaglini, Francesco Brancati, Jennifer L. Silhavy, Miriam Iannicelli, Elizabeth Nickerson, Nadia Elkhartoufi, Eric Scott, Emily Spencer, Stacey Gabriel, Sophie Thomas, Bruria Ben‐Zeev, Enrico Bertini, Eugen Boltshauser, Malika Chaouch, Maria Roberta Cilio, Mirjam M. de Jong, Hülya Kayserili, Gönül Oğur, Andrea Poretti, Sabrina Signorini, Graziella Uziel, Maha S. Zaki, Colin A. Johnson, Tania Attié‐Bitach, Joseph G. Gleeson, Enza Maria Valente
منشور في 2013Artigo -
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CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders حسب Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah Marsh, Lorena Travaglini, Stephanie Bielas, Maria Amorini, Dominika Zablocka, Hülya Kayserili, Lihadh Al‐Gazali, Enrico Bertini, Eugen Boltshauser, Marc D’Hooghe, Elisa Fazzi, Elif Yosunkaya Fenerci, Raoul C. M. Hennekam, Andrea Kiss, Melissa Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Stéphane Romano, Carmelo Salpietro, Elliott H. Sherr, Sabrina Signorini, Petter Strømme, Bernard Stuart, László Sztriha, David Viskochil, Adnan Yüksel, Bruno Dallapiccola, Enza Maria Valente, Joseph G. Gleeson
منشور في 2007Artigo
أدوات البحث:
موضوعات ذات صلة
Medicine
Biology
Psychology
Genetics
Gene
Psychiatry
Audiology
Clinical psychology
Developmental psychology
Internal medicine
Phenotype
Ciliopathies
Ciliopathy
Joubert syndrome
Mutation
Neuroscience
Ophthalmology
Pathology
Pediatrics
Physical medicine and rehabilitation
Allele
Bioinformatics
Cerebral palsy
Cognition
Cognitive psychology
Computer science
Construct validity
Depression (economics)
Dysplasia
Economics