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Enza Maria Valente

Showing results (61-70 of 335) with videos related to

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Advances in Neurology|September 27, 2003
Clinical presentation and progression of sporadic and familial primary torsion dystonia in ItalyAnna Rita Bentivoglio, Antonio E Elia, Graziella Filippini, et al.
Differentiation; Research in Biological Diversity|March 12, 2014
The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cellsSveva Romani, Barbara Illi, Roberta De Mori, et al.
Neurology|March 12, 2017
Early-onset head titubation in a child with Poretti-Boltshauser syndromeRiccardo Masson, Elena Piretti, Serena Pellegrin, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 16, 2023
Reply to: "Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort"Marco Percetti, Edoardo Monfrini, Leonardo Caporali, et al.
Investigative Ophthalmology & Visual Science|September 28, 2005
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophiesMarco Castori, Enza Maria Valente, Maurizio Clementi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 14, 2022
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European CohortsMarco Percetti, Edoardo Monfrini, Leonardo Caporali, et al.
Molecular Biology Reports|October 5, 2019
A novel IRF2BPL truncating variant is associated with endolysosomal storageMonia Ginevrino, Roberta Battini, Sara Nuovo, et al.
American Journal of Medical Genetics. Part A|February 9, 2023
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorderSimone Gana, Valentina Serpieri, Elisa Giorgio, et al.
Molecular Genetics & Genomic Medicine|June 10, 2026
Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature ReviewMauro Lecca, Chiara Bosetti, Federico Ruoli, et al.
Research in Developmental Disabilities|October 23, 2015
Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case reportChiara Gagliardi, Viola Brenna, Romina Romaniello, et al.
Pageof 34

Showing results (61-70 of 335) with videos related to

Sort By:
Pageof 34
Advances in Neurology|September 27, 2003
Clinical presentation and progression of sporadic and familial primary torsion dystonia in ItalyAnna Rita Bentivoglio, Antonio E Elia, Graziella Filippini, et al.
Differentiation; Research in Biological Diversity|March 12, 2014
The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cellsSveva Romani, Barbara Illi, Roberta De Mori, et al.
Neurology|March 12, 2017
Early-onset head titubation in a child with Poretti-Boltshauser syndromeRiccardo Masson, Elena Piretti, Serena Pellegrin, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 16, 2023
Reply to: "Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort"Marco Percetti, Edoardo Monfrini, Leonardo Caporali, et al.
Investigative Ophthalmology & Visual Science|September 28, 2005
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophiesMarco Castori, Enza Maria Valente, Maurizio Clementi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 14, 2022
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European CohortsMarco Percetti, Edoardo Monfrini, Leonardo Caporali, et al.
Molecular Biology Reports|October 5, 2019
A novel IRF2BPL truncating variant is associated with endolysosomal storageMonia Ginevrino, Roberta Battini, Sara Nuovo, et al.
American Journal of Medical Genetics. Part A|February 9, 2023
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorderSimone Gana, Valentina Serpieri, Elisa Giorgio, et al.
Molecular Genetics & Genomic Medicine|June 10, 2026
Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature ReviewMauro Lecca, Chiara Bosetti, Federico Ruoli, et al.
Research in Developmental Disabilities|October 23, 2015
Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case reportChiara Gagliardi, Viola Brenna, Romina Romaniello, et al.
Pageof 34