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Simona Amenta

Showing results (21-30 of 29) with videos related to

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European Journal of Human Genetics : EJHG|February 16, 2023
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categoriesSimona Amenta, Giuseppe Marangi, Daniela Orteschi, et al.
Seizure|January 16, 2023
Pyridoxine supplementation in PACS2-related encephalopathy: A case report of possible precision therapyMarco Perulli, Maria Picilli, Ilaria Contaldo, et al.
Journal of Medical Genetics|December 28, 2020
Adult phenotype in Koolen-de Vries/<i>KANSL1</i> haploinsufficiency syndromeSimona Amenta, Silvia Frangella, Giuseppe Marangi, et al.
Genes|July 27, 2022
Mother and Daughter Carrying of the Same Pathogenic Variant in <i>FGFR2</i> with Discordant PhenotypeFilomena Lo Vecchio, Elisabetta Tabolacci, Veronica Nobile, et al.
European Heart Journal|September 24, 2021
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic deathRoddy Walsh, Arnon Adler, Ahmad S Amin, et al.
Circulation|January 28, 2020
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT SyndromeArnon Adler, Valeria Novelli, Ahmad S Amin, et al.
Behavior Research Methods|February 3, 2022
Expanding horizons of cross-linguistic research on reading: The Multilingual Eye-movement Corpus (MECO)Noam Siegelman, Sascha Schroeder, Cengiz Acartürk, et al.
American Journal of Human Genetics|October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossElodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.
Nature Human Behaviour|September 24, 2025
Measuring the semantic priming effect across many languagesErin M Buchanan, Kelly Cuccolo, Tom Heyman, et al.
Pageof 3

Showing results (21-30 of 29) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 29 results.
European Journal of Human Genetics : EJHG|February 16, 2023
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categoriesSimona Amenta, Giuseppe Marangi, Daniela Orteschi, et al.
Seizure|January 16, 2023
Pyridoxine supplementation in PACS2-related encephalopathy: A case report of possible precision therapyMarco Perulli, Maria Picilli, Ilaria Contaldo, et al.
Journal of Medical Genetics|December 28, 2020
Adult phenotype in Koolen-de Vries/<i>KANSL1</i> haploinsufficiency syndromeSimona Amenta, Silvia Frangella, Giuseppe Marangi, et al.
Genes|July 27, 2022
Mother and Daughter Carrying of the Same Pathogenic Variant in <i>FGFR2</i> with Discordant PhenotypeFilomena Lo Vecchio, Elisabetta Tabolacci, Veronica Nobile, et al.
European Heart Journal|September 24, 2021
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic deathRoddy Walsh, Arnon Adler, Ahmad S Amin, et al.
Circulation|January 28, 2020
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT SyndromeArnon Adler, Valeria Novelli, Ahmad S Amin, et al.
Behavior Research Methods|February 3, 2022
Expanding horizons of cross-linguistic research on reading: The Multilingual Eye-movement Corpus (MECO)Noam Siegelman, Sascha Schroeder, Cengiz Acartürk, et al.
American Journal of Human Genetics|October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossElodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.
Nature Human Behaviour|September 24, 2025
Measuring the semantic priming effect across many languagesErin M Buchanan, Kelly Cuccolo, Tom Heyman, et al.
Pageof 3