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Elena Parrini

Showing results (31-40 of 82) with videos related to

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Neurology. Genetics|February 12, 2020
Early infantile epileptic-dyskinetic encephalopathy due to biallelic <i>PIGP</i> mutationsAnnalisa Vetro, Tiziana Pisano, Silvia Chiaro, et al.
American Journal of Medical Genetics. Part A|April 26, 2017
Lissencephaly: Expanded imaging and clinical classificationNataliya Di Donato, Sara Chiari, Ghayda M Mirzaa, et al.
Neurology. Genetics|May 21, 2021
Migrating Focal Seizures and Myoclonic Status in <i>ARV1-</i>Related EncephalopathyFrancesca Darra, Tommaso Lo Barco, Roberta Opri, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 26, 2023
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic SpectrumSerena Galosi, Maria Novelli, Martina Di Rocco, et al.
Brain Communications|January 12, 2026
Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicatorsSimona Pellacani, Simona Balestrini, Edoardo Fino, et al.
Fetal and Pediatric Pathology|September 1, 2022
Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous <i>POMT2</i> Missense MutationsSilvia Zago, Evelina Silvestri, Tiziana Arcangeli, et al.
Journal of Medical Genetics|March 11, 2015
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effectsElena Parrini, Davide Mei, Maria Antonietta Pisanti, et al.
Frontiers in Pediatrics|September 26, 2019
A <i>de novo</i> KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature DataGianluigi Laccetta, Simona Fiori, Matteo Giampietri, et al.
Epilepsia|September 29, 2009
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathyDavide Mei, Carla Marini, Francesca Novara, et al.
Scientific Reports|June 12, 2020
Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment lengthBarbara Iadarola, Luciano Xumerle, Denise Lavezzari, et al.
Pageof 9

Showing results (31-40 of 82) with videos related to

Sort By:
Pageof 9
Neurology. Genetics|February 12, 2020
Early infantile epileptic-dyskinetic encephalopathy due to biallelic <i>PIGP</i> mutationsAnnalisa Vetro, Tiziana Pisano, Silvia Chiaro, et al.
American Journal of Medical Genetics. Part A|April 26, 2017
Lissencephaly: Expanded imaging and clinical classificationNataliya Di Donato, Sara Chiari, Ghayda M Mirzaa, et al.
Neurology. Genetics|May 21, 2021
Migrating Focal Seizures and Myoclonic Status in <i>ARV1-</i>Related EncephalopathyFrancesca Darra, Tommaso Lo Barco, Roberta Opri, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 26, 2023
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic SpectrumSerena Galosi, Maria Novelli, Martina Di Rocco, et al.
Brain Communications|January 12, 2026
Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicatorsSimona Pellacani, Simona Balestrini, Edoardo Fino, et al.
Fetal and Pediatric Pathology|September 1, 2022
Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous <i>POMT2</i> Missense MutationsSilvia Zago, Evelina Silvestri, Tiziana Arcangeli, et al.
Journal of Medical Genetics|March 11, 2015
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effectsElena Parrini, Davide Mei, Maria Antonietta Pisanti, et al.
Frontiers in Pediatrics|September 26, 2019
A <i>de novo</i> KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature DataGianluigi Laccetta, Simona Fiori, Matteo Giampietri, et al.
Epilepsia|September 29, 2009
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathyDavide Mei, Carla Marini, Francesca Novara, et al.
Scientific Reports|June 12, 2020
Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment lengthBarbara Iadarola, Luciano Xumerle, Denise Lavezzari, et al.
Pageof 9