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Simona Balestrini

Showing results (91-100 of 119) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2025
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendationsMaria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, et al.
Epilepsia|October 25, 2025
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiologySimona Balestrini, Ilaria Galli, Maria Luisa Ricci, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2025
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and managementDiana Tambala, Rachel Vassar, John Snow, et al.
Epilepsia|January 27, 2024
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paperEmilio Perucca, Jacqueline A French, Ghaieb Aljandeel, et al.
Neurology|March 16, 2022
Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With AbsencesEmanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, et al.
Ebiomedicine|July 30, 2025
SUDEP risk is influenced by longevity genomics: a polygenic risk score studyHelena Martins, James D Mills, Susanna Pagni, et al.
Epilepsia Open|March 20, 2023
A registry for Dravet syndrome: The Italian experienceSimona Balestrini, Viola Doccini, Sabrina Giometto, et al.
Epilepsia|October 29, 2022
The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter studyEmanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, et al.
Epilepsia|April 6, 2023
Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myocloniaEmanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, et al.
Epilepsia|December 13, 2023
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencingAntonietta Coppola, S Krithika, Michele Iacomino, et al.
Pageof 12

Showing results (91-100 of 119) with videos related to

Sort By:
Pageof 12
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2025
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendationsMaria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, et al.
Epilepsia|October 25, 2025
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiologySimona Balestrini, Ilaria Galli, Maria Luisa Ricci, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2025
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and managementDiana Tambala, Rachel Vassar, John Snow, et al.
Epilepsia|January 27, 2024
Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paperEmilio Perucca, Jacqueline A French, Ghaieb Aljandeel, et al.
Neurology|March 16, 2022
Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With AbsencesEmanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, et al.
Ebiomedicine|July 30, 2025
SUDEP risk is influenced by longevity genomics: a polygenic risk score studyHelena Martins, James D Mills, Susanna Pagni, et al.
Epilepsia Open|March 20, 2023
A registry for Dravet syndrome: The Italian experienceSimona Balestrini, Viola Doccini, Sabrina Giometto, et al.
Epilepsia|October 29, 2022
The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter studyEmanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, et al.
Epilepsia|April 6, 2023
Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myocloniaEmanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, et al.
Epilepsia|December 13, 2023
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencingAntonietta Coppola, S Krithika, Michele Iacomino, et al.
Pageof 12