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Alessandra Terracciano

Showing results (41-50 of 49) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 19, 2022
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disabilitySilvia Radenkovic, Diego Martinelli, Yuebo Zhang, et al.
Genes|August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic SpectrumGianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
Epilepsia|September 6, 2012
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsyCarla Marini, Francesca Darra, Nicola Specchio, et al.
Clinical Genetics|June 19, 2025
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European StudySilvia Giovanella, Antonio Miguel Poyatos-Andújar, Maria Mar Aguila Garcia, et al.
Epilepsia|July 10, 2020
Defining the phenotype of FHF1 developmental and epileptic encephalopathyMarina Trivisano, Alessandro Ferretti, Elizabeth Bebin, et al.
Epilepsia|November 20, 2018
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter studyMarina Trivisano, Nicola Pietrafusa, Alessandra Terracciano, et al.
American Journal of Human Genetics|February 24, 2022
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndromeFederico Tessadori, Karen Duran, Karen Knapp, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
Pageof 5

Showing results (41-50 of 49) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 49 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 19, 2022
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disabilitySilvia Radenkovic, Diego Martinelli, Yuebo Zhang, et al.
Genes|August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic SpectrumGianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
Epilepsia|September 6, 2012
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsyCarla Marini, Francesca Darra, Nicola Specchio, et al.
Clinical Genetics|June 19, 2025
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European StudySilvia Giovanella, Antonio Miguel Poyatos-Andújar, Maria Mar Aguila Garcia, et al.
Epilepsia|July 10, 2020
Defining the phenotype of FHF1 developmental and epileptic encephalopathyMarina Trivisano, Alessandro Ferretti, Elizabeth Bebin, et al.
Epilepsia|November 20, 2018
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter studyMarina Trivisano, Nicola Pietrafusa, Alessandra Terracciano, et al.
American Journal of Human Genetics|February 24, 2022
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndromeFederico Tessadori, Karen Duran, Karen Knapp, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
Pageof 5