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Carlo Fusco

Showing results (121-130 of 149) with videos related to

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Genes|July 2, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the LiteratureGabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, et al.
Science Advances|July 3, 2021
A live single-cell reporter assay links intratumor heterogeneity to metastatic proclivity in Ewing sarcomaTugba Keskin, Beatrice Rucci, Sandrine Cornaz-Buros, et al.
Molecular Syndromology|December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature ReviewIlenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.
Genes|January 21, 2022
Clinical and Genetic Findings in a Series of Eight Families with ArthrogryposisMarzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, et al.
Parkinsonism & Related Disorders|May 18, 2017
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patientsMiryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, et al.
International Journal of Molecular Sciences|January 27, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter StudyBenedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, et al.
Genes|August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic SpectrumGianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 31, 2026
Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5)Aurélie Méneret, Clément Tarrano, Asya Ekmen, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|August 28, 2022
EEG at onset and MRI predict long-term clinical outcome in Aicardi syndromeSilvia Masnada, Enrico Alfei, Manuela Formica, et al.
Frontiers in Neurology|August 28, 2020
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in <i>SCN4A</i> in a Large Cohort of Italian PatientsLorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, et al.
Pageof 15

Showing results (121-130 of 149) with videos related to

Sort By:
Pageof 15
Genes|July 2, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the LiteratureGabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, et al.
Science Advances|July 3, 2021
A live single-cell reporter assay links intratumor heterogeneity to metastatic proclivity in Ewing sarcomaTugba Keskin, Beatrice Rucci, Sandrine Cornaz-Buros, et al.
Molecular Syndromology|December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature ReviewIlenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.
Genes|January 21, 2022
Clinical and Genetic Findings in a Series of Eight Families with ArthrogryposisMarzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, et al.
Parkinsonism & Related Disorders|May 18, 2017
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patientsMiryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, et al.
International Journal of Molecular Sciences|January 27, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter StudyBenedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, et al.
Genes|August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic SpectrumGianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 31, 2026
Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5)Aurélie Méneret, Clément Tarrano, Asya Ekmen, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|August 28, 2022
EEG at onset and MRI predict long-term clinical outcome in Aicardi syndromeSilvia Masnada, Enrico Alfei, Manuela Formica, et al.
Frontiers in Neurology|August 28, 2020
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in <i>SCN4A</i> in a Large Cohort of Italian PatientsLorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, et al.
Pageof 15