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Elena Parrini

Showing results (41-50 of 82) with videos related to

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European Journal of Human Genetics : EJHG|January 27, 2019
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneityElena Cellini, Annalisa Vetro, Valerio Conti, et al.
Epilepsia|June 7, 2014
Co-occurring malformations of cortical development and SCN1A gene mutationsCarmen Barba, Elena Parrini, Roland Coras, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Periventricular nodular heterotopia in Smith-Magenis syndromeValeria Capra, Roberta Biancheri, Giovanni Morana, et al.
Neurology|March 6, 2016
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWSEmanuele Bartolini, Melania Falchi, Francesco Zellini, et al.
Epilepsia|January 24, 2004
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutationsPaolo Bonanni, Michela Malcarne, Francesca Moro, et al.
Endocrine Connections|August 30, 2024
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literatureAlessandro Barbato, Giulia Gori, Michele Sacchini, et al.
Neurology. Genetics|December 22, 2017
Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutationsCarla Marini, Michele Romoli, Elena Parrini, et al.
American Journal of Human Genetics|July 11, 2006
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fearPaolo Aridon, Carla Marini, Chiara Di Resta, et al.
Epilepsy Research|January 28, 2021
Deciphering the premature mortality in PIGA-CDG - An untold storyAllan Bayat, Marius Kløvgaard, Katrine M Johannesen, et al.
Human Mutation|November 20, 2016
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different GenesElena Parrini, Carla Marini, Davide Mei, et al.
Pageof 9

Showing results (41-50 of 82) with videos related to

Sort By:
Pageof 9
European Journal of Human Genetics : EJHG|January 27, 2019
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneityElena Cellini, Annalisa Vetro, Valerio Conti, et al.
Epilepsia|June 7, 2014
Co-occurring malformations of cortical development and SCN1A gene mutationsCarmen Barba, Elena Parrini, Roland Coras, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Periventricular nodular heterotopia in Smith-Magenis syndromeValeria Capra, Roberta Biancheri, Giovanni Morana, et al.
Neurology|March 6, 2016
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWSEmanuele Bartolini, Melania Falchi, Francesco Zellini, et al.
Epilepsia|January 24, 2004
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutationsPaolo Bonanni, Michela Malcarne, Francesca Moro, et al.
Endocrine Connections|August 30, 2024
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literatureAlessandro Barbato, Giulia Gori, Michele Sacchini, et al.
Neurology. Genetics|December 22, 2017
Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutationsCarla Marini, Michele Romoli, Elena Parrini, et al.
American Journal of Human Genetics|July 11, 2006
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fearPaolo Aridon, Carla Marini, Chiara Di Resta, et al.
Epilepsy Research|January 28, 2021
Deciphering the premature mortality in PIGA-CDG - An untold storyAllan Bayat, Marius Kløvgaard, Katrine M Johannesen, et al.
Human Mutation|November 20, 2016
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different GenesElena Parrini, Carla Marini, Davide Mei, et al.
Pageof 9