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Sabrina Signorini

Showing results (71-80 of 89) with videos related to

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Nature Genetics|May 10, 2006
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza Maria Valente, Jennifer L Silhavy, Francesco Brancati, et al.
Disability and Rehabilitation|May 19, 2021
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspectiveRomina Romaniello, Chiara Gagliardi, Patrizia Desalvo, et al.
Investigative Ophthalmology & Visual Science|September 24, 2010
Molecular and clinical characterization of albinism in a large cohort of Italian patientsAnnagiusi Gargiulo, Francesco Testa, Settimio Rossi, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 8, 2018
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndromeSara Nuovo, Laura Fuiano, Alessia Micalizzi, et al.
AJNR. American Journal of Neuroradiology|October 15, 2024
Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric StudyLudovica Pasca, Filippo Arrigoni, Romina Romaniello, et al.
Human Mutation|December 6, 2008
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementFrancesco Brancati, Miriam Iannicelli, Lorena Travaglini, et al.
European Radiology|July 6, 2017
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, et al.
European Radiology|September 14, 2017
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, et al.
Investigative Ophthalmology & Visual Science|February 7, 2022
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History StudyFrancesco Testa, Vittoria Murro, Sabrina Signorini, et al.
Children (Basel, Switzerland)|May 27, 2026
Multicenter Study on Communication, Language and Speech in Italian Children with Cerebral Palsy-Survey, Assessement Protocols and Proposal for a Classification SystemElisa Granocchio, Claudia Maggiulli, Luca Andreoli, et al.
Pageof 9

Showing results (71-80 of 89) with videos related to

Sort By:
Pageof 9
Nature Genetics|May 10, 2006
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza Maria Valente, Jennifer L Silhavy, Francesco Brancati, et al.
Disability and Rehabilitation|May 19, 2021
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspectiveRomina Romaniello, Chiara Gagliardi, Patrizia Desalvo, et al.
Investigative Ophthalmology & Visual Science|September 24, 2010
Molecular and clinical characterization of albinism in a large cohort of Italian patientsAnnagiusi Gargiulo, Francesco Testa, Settimio Rossi, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 8, 2018
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndromeSara Nuovo, Laura Fuiano, Alessia Micalizzi, et al.
AJNR. American Journal of Neuroradiology|October 15, 2024
Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric StudyLudovica Pasca, Filippo Arrigoni, Romina Romaniello, et al.
Human Mutation|December 6, 2008
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementFrancesco Brancati, Miriam Iannicelli, Lorena Travaglini, et al.
European Radiology|July 6, 2017
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, et al.
European Radiology|September 14, 2017
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, et al.
Investigative Ophthalmology & Visual Science|February 7, 2022
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History StudyFrancesco Testa, Vittoria Murro, Sabrina Signorini, et al.
Children (Basel, Switzerland)|May 27, 2026
Multicenter Study on Communication, Language and Speech in Italian Children with Cerebral Palsy-Survey, Assessement Protocols and Proposal for a Classification SystemElisa Granocchio, Claudia Maggiulli, Luca Andreoli, et al.
Pageof 9