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Francesco Mari

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Neurology. Genetics|December 22, 2017
Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutationsCarla Marini, Michele Romoli, Elena Parrini, et al.
Plos One|September 8, 2020
Patterns and predictors of language representation and the influence of epilepsy surgery on language reorganization in children and young adults with focal lesional epilepsyCarmen Barba, Domenico Montanaro, Laura Grisotto, et al.
Human Mutation|November 20, 2016
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different GenesElena Parrini, Carla Marini, Davide Mei, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 17, 2024
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocolSimone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, et al.
Journal of Clinical Medicine|August 7, 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort StudyDeborah Tolomeo, Daniele Orsucci, Claudia Nesti, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 28, 2022
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impairedMichela Taiana, Alessandra Govoni, Sabrina Salani, et al.
International Journal of Molecular Sciences|December 11, 2022
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation SequencingGemma Marinella, Guja Astrea, Bianca Buchignani, et al.
Brain : a Journal of Neurology|October 21, 2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophySteffen Syrbe, Frederike L Harms, Elena Parrini, et al.
Frontiers in Neurology|December 20, 2018
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional StudyAngelica D'Amore, Alessandra Tessa, Carlo Casali, et al.
Science Advances|March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.
Pageof 7

Showing results (61-70 of 70) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 70 results.
Neurology. Genetics|December 22, 2017
Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutationsCarla Marini, Michele Romoli, Elena Parrini, et al.
Plos One|September 8, 2020
Patterns and predictors of language representation and the influence of epilepsy surgery on language reorganization in children and young adults with focal lesional epilepsyCarmen Barba, Domenico Montanaro, Laura Grisotto, et al.
Human Mutation|November 20, 2016
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different GenesElena Parrini, Carla Marini, Davide Mei, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 17, 2024
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocolSimone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, et al.
Journal of Clinical Medicine|August 7, 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort StudyDeborah Tolomeo, Daniele Orsucci, Claudia Nesti, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 28, 2022
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impairedMichela Taiana, Alessandra Govoni, Sabrina Salani, et al.
International Journal of Molecular Sciences|December 11, 2022
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation SequencingGemma Marinella, Guja Astrea, Bianca Buchignani, et al.
Brain : a Journal of Neurology|October 21, 2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophySteffen Syrbe, Frederike L Harms, Elena Parrini, et al.
Frontiers in Neurology|December 20, 2018
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional StudyAngelica D'Amore, Alessandra Tessa, Carlo Casali, et al.
Science Advances|March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.
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