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Enza Maria Valente

Showing results (31-40 of 335) with videos related to

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European Journal of Human Genetics : EJHG|February 14, 2013
Clinical utility gene card for: Joubert syndrome--update 2013Enza Maria Valente, Francesco Brancati, Eugen Boltshauser, et al.
Briefings in Bioinformatics|August 11, 2012
A solid quality-control analysis of AB SOLiD short-read sequencing dataStefano Castellana, Marta Romani, Enza Maria Valente, et al.
Neurology. Genetics|April 29, 2016
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathiesMarta Romani, Cybel Mehawej, Tommaso Mazza, et al.
Annals of Neurology|December 8, 2023
MRI Abnormalities Identify Neuronal Intranuclear Inclusion DiseaseTiziana De Santis, Letterio S Politi, Enza Maria Valente, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|June 7, 2015
Candidate genes for Parkinson disease: Lessons from pathogenesisPriscilla De Rosa, Elettra Sara Marini, Vania Gelmetti, et al.
Parkinsonism & Related Disorders|December 5, 2021
Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegenerationFrancesca Antonelli, Gaetano Grieco, Francesco Cavallieri, et al.
Movement Disorders Clinical Practice|January 27, 2023
Benign Hereditary Chorea as a Manifestation of HPCA MutationSara Brunetti, Serena Micheletti, Ilaria Palmieri, et al.
Nature Reviews. Neurology|December 4, 2013
Primary cilia in neurodevelopmental disordersEnza Maria Valente, Rasim O Rosti, Elizabeth Gibbs, et al.
Journal of Pediatric Neurosciences|September 14, 2019
Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian GirlSakshi Jain, Himani Bhasin, Marta Romani, et al.
American Journal of Medical Genetics. Part A|October 20, 2022
Mosaic Williams syndrome: A case reportSilvia Kalantari, Marta Di Biagio, Enza Maria Valente, et al.
Pageof 34

Showing results (31-40 of 335) with videos related to

Sort By:
Pageof 34
European Journal of Human Genetics : EJHG|February 14, 2013
Clinical utility gene card for: Joubert syndrome--update 2013Enza Maria Valente, Francesco Brancati, Eugen Boltshauser, et al.
Briefings in Bioinformatics|August 11, 2012
A solid quality-control analysis of AB SOLiD short-read sequencing dataStefano Castellana, Marta Romani, Enza Maria Valente, et al.
Neurology. Genetics|April 29, 2016
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathiesMarta Romani, Cybel Mehawej, Tommaso Mazza, et al.
Annals of Neurology|December 8, 2023
MRI Abnormalities Identify Neuronal Intranuclear Inclusion DiseaseTiziana De Santis, Letterio S Politi, Enza Maria Valente, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|June 7, 2015
Candidate genes for Parkinson disease: Lessons from pathogenesisPriscilla De Rosa, Elettra Sara Marini, Vania Gelmetti, et al.
Parkinsonism & Related Disorders|December 5, 2021
Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegenerationFrancesca Antonelli, Gaetano Grieco, Francesco Cavallieri, et al.
Movement Disorders Clinical Practice|January 27, 2023
Benign Hereditary Chorea as a Manifestation of HPCA MutationSara Brunetti, Serena Micheletti, Ilaria Palmieri, et al.
Nature Reviews. Neurology|December 4, 2013
Primary cilia in neurodevelopmental disordersEnza Maria Valente, Rasim O Rosti, Elizabeth Gibbs, et al.
Journal of Pediatric Neurosciences|September 14, 2019
Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian GirlSakshi Jain, Himani Bhasin, Marta Romani, et al.
American Journal of Medical Genetics. Part A|October 20, 2022
Mosaic Williams syndrome: A case reportSilvia Kalantari, Marta Di Biagio, Enza Maria Valente, et al.
Pageof 34