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Alessandra Terracciano

Showing results (11-20 of 49) with videos related to

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European Journal of Human Genetics : EJHG|January 22, 2004
Expansion to full mutation of a FMR1 intermediate allele over two generationsAlessandra Terracciano, Maria Grazia Pomponi, Grazia Maria Elisabetta Marino, et al.
Epilepsy & Behavior : E&B|December 16, 2014
Cognitive development in females with PCDH19 gene-related epilepsySimona Cappelletti, Nicola Specchio, Romina Moavero, et al.
Epilepsia|January 15, 2016
PCDH19-related epilepsy in two mosaic male patientsAlessandra Terracciano, Marina Trivisano, Raffaella Cusmai, et al.
Epilepsy Research|July 3, 2016
PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivityMarina Trivisano, Nicola Pietrafusa, Vincenzo di Ciommo, et al.
Human Molecular Genetics|November 26, 2004
Molecular dissection of the events leading to inactivation of the FMR1 geneRoberta Pietrobono, Elisabetta Tabolacci, Francesca Zalfa, et al.
Clinical Kidney Journal|November 6, 2025
Cardiac complications in autosomal dominant polycystic kidney disease: links to genotype and CKD severityGiulia Condello, Pierluigi Fulignati, Viola D'Ambrosio, et al.
Brain & Development|June 4, 2023
Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case reportJessica Rossi, Marco Russo, Giuseppe Gobbi, et al.
Human Mutation|January 3, 2013
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architectureAlessandro Romano, Alessandra Tessa, Amilcare Barca, et al.
Epilepsy & Behavior : E&B|December 11, 2024
Infantile epileptic spasms syndrome: When spasms come out of the blueMarta Conti, Sara Matricardi, Ludovica M Piscitello, et al.
Pediatric Neurology|April 16, 2014
Epilepsy in patients with duplications of chromosome 14 harboring FOXG1Giuseppe Pontrelli, Simona Cappelletti, Dianela Claps, et al.
Pageof 5

Showing results (11-20 of 49) with videos related to

Sort By:
Pageof 5
European Journal of Human Genetics : EJHG|January 22, 2004
Expansion to full mutation of a FMR1 intermediate allele over two generationsAlessandra Terracciano, Maria Grazia Pomponi, Grazia Maria Elisabetta Marino, et al.
Epilepsy & Behavior : E&B|December 16, 2014
Cognitive development in females with PCDH19 gene-related epilepsySimona Cappelletti, Nicola Specchio, Romina Moavero, et al.
Epilepsia|January 15, 2016
PCDH19-related epilepsy in two mosaic male patientsAlessandra Terracciano, Marina Trivisano, Raffaella Cusmai, et al.
Epilepsy Research|July 3, 2016
PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivityMarina Trivisano, Nicola Pietrafusa, Vincenzo di Ciommo, et al.
Human Molecular Genetics|November 26, 2004
Molecular dissection of the events leading to inactivation of the FMR1 geneRoberta Pietrobono, Elisabetta Tabolacci, Francesca Zalfa, et al.
Clinical Kidney Journal|November 6, 2025
Cardiac complications in autosomal dominant polycystic kidney disease: links to genotype and CKD severityGiulia Condello, Pierluigi Fulignati, Viola D'Ambrosio, et al.
Brain & Development|June 4, 2023
Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case reportJessica Rossi, Marco Russo, Giuseppe Gobbi, et al.
Human Mutation|January 3, 2013
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architectureAlessandro Romano, Alessandra Tessa, Amilcare Barca, et al.
Epilepsy & Behavior : E&B|December 11, 2024
Infantile epileptic spasms syndrome: When spasms come out of the blueMarta Conti, Sara Matricardi, Ludovica M Piscitello, et al.
Pediatric Neurology|April 16, 2014
Epilepsy in patients with duplications of chromosome 14 harboring FOXG1Giuseppe Pontrelli, Simona Cappelletti, Dianela Claps, et al.
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