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Alessandro Simonati

Showing results (71-80 of 76) with videos related to

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Brain : a Journal of Neurology|April 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyriaAnnalisa Vetro, Hang N Nielsen, Rikke Holm, et al.
Biochimica Et Biophysica Acta|April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findingsAnna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
Human Genetics|November 20, 2014
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani, Francesca Mancini, Alessia Micalizzi, et al.
Brain : a Journal of Neurology|December 19, 2018
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic featuresSamuel F Berkovic, Karen L Oliver, Laura Canafoglia, et al.
Journal of Medical Genetics|June 4, 2021
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric studySara Nuovo, Alessia Micalizzi, Romina Romaniello, et al.
Human Mutation|December 24, 2008
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletionPaola S Denora, David Schlesinger, Carlo Casali, et al.
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Showing results (71-80 of 76) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 76 results.
Brain : a Journal of Neurology|April 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyriaAnnalisa Vetro, Hang N Nielsen, Rikke Holm, et al.
Biochimica Et Biophysica Acta|April 19, 2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findingsAnna Caciotti, Scott C Garman, Yadilette Rivera-Colón, et al.
Human Genetics|November 20, 2014
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Marta Romani, Francesca Mancini, Alessia Micalizzi, et al.
Brain : a Journal of Neurology|December 19, 2018
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic featuresSamuel F Berkovic, Karen L Oliver, Laura Canafoglia, et al.
Journal of Medical Genetics|June 4, 2021
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric studySara Nuovo, Alessia Micalizzi, Romina Romaniello, et al.
Human Mutation|December 24, 2008
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletionPaola S Denora, David Schlesinger, Carlo Casali, et al.
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