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Lisa Pavinato

Showing results (1-10 of 26) with videos related to

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Trends in Cancer|January 28, 2025
Oncogenic competence: balancing mutations, cellular state, and microenvironmentLisa Pavinato, Arianna Baggiolini
International Journal of Molecular Sciences|March 13, 2025
A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy DatasetsVeronica Remori, Heather Bondi, Manuel Airoldi, et al.
Scientific Reports|March 14, 2025
Arg209Lys and Gln508His missense variants in Rabphilin 3A cause pre- and post-synaptic dysfunctions at excitatory glutamatergic synapsesMarta Barzasi, Alessio Spinola, Alex Costa, et al.
International Journal of Molecular Sciences|June 10, 2022
The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental DisordersCarla Liaci, Lucia Prandi, Lisa Pavinato, et al.
Brain Sciences|October 31, 2020
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature ReviewSlavica Trajkova, Eleonora Di Gregorio, Giovanni Battista Ferrero, et al.
International Journal of Molecular Sciences|July 2, 2021
<i>KCNK18</i> Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel ActivityLisa Pavinato, Ehsan Nematian-Ardestani, Andrea Zonta, et al.
American Journal of Medical Genetics. Part A|March 6, 2021
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature reviewLisa Pavinato, Slavica Trajkova, Enrico Grosso, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|August 11, 2022
p140Cap Regulates the Composition and Localization of the NMDAR Complex in Synaptic Lipid RaftsCostanza Angelini, Alessandro Morellato, Annalisa Alfieri, et al.
Clinical Genetics|November 27, 2024
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical ManifestationsLisa Pavinato, Silvia Carestiato, Slavica Trajkova, et al.
Human Genetics|May 18, 2023
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspotEnza Ferrero, Eleonora Di Gregorio, Marta Ferrero, et al.
Pageof 3

Showing results (1-10 of 26) with videos related to

Sort By:
Pageof 3
Trends in Cancer|January 28, 2025
Oncogenic competence: balancing mutations, cellular state, and microenvironmentLisa Pavinato, Arianna Baggiolini
International Journal of Molecular Sciences|March 13, 2025
A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy DatasetsVeronica Remori, Heather Bondi, Manuel Airoldi, et al.
Scientific Reports|March 14, 2025
Arg209Lys and Gln508His missense variants in Rabphilin 3A cause pre- and post-synaptic dysfunctions at excitatory glutamatergic synapsesMarta Barzasi, Alessio Spinola, Alex Costa, et al.
International Journal of Molecular Sciences|June 10, 2022
The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental DisordersCarla Liaci, Lucia Prandi, Lisa Pavinato, et al.
Brain Sciences|October 31, 2020
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature ReviewSlavica Trajkova, Eleonora Di Gregorio, Giovanni Battista Ferrero, et al.
International Journal of Molecular Sciences|July 2, 2021
<i>KCNK18</i> Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel ActivityLisa Pavinato, Ehsan Nematian-Ardestani, Andrea Zonta, et al.
American Journal of Medical Genetics. Part A|March 6, 2021
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature reviewLisa Pavinato, Slavica Trajkova, Enrico Grosso, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|August 11, 2022
p140Cap Regulates the Composition and Localization of the NMDAR Complex in Synaptic Lipid RaftsCostanza Angelini, Alessandro Morellato, Annalisa Alfieri, et al.
Clinical Genetics|November 27, 2024
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical ManifestationsLisa Pavinato, Silvia Carestiato, Slavica Trajkova, et al.
Human Genetics|May 18, 2023
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspotEnza Ferrero, Eleonora Di Gregorio, Marta Ferrero, et al.
Pageof 3