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Chiara Fiorillo

Showing results (31-40 of 142) with videos related to

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Intensive & Critical Care Nursing|October 17, 2024
Simulated haemodynamic parameters and different infusion set-up affect drug delivery during syringe pump change over: A bench-top study in a laboratory settingAlberto Lucchini, Stefano Elli, Alessia Burgazzi, et al.
Seizure|July 7, 2019
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature reviewThea Giacomini, Livia Pisciotta, Giulia Prato, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 15, 2012
De novo FTL mutation: a clinical, neuroimaging, and molecular studyEugenia Storti, Francesca Cortese, Roberto Di Fabio, et al.
JIMD Reports|March 2, 2017
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 MutationFrancesca Minoia, Marta Bertamino, Paolo Picco, et al.
Pediatric Neurology|January 1, 2016
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular DystrophyRiccardo Papa, Francesca Madia, Domenico Bartolomeo, et al.
Journal of Neurology|April 19, 2018
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutationsMariasavina Severino, Susanna Lualdi, Chiara Fiorillo, et al.
Muscle & Nerve|September 27, 2014
Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA geneLucia Ruggiero, Chiara Fiorillo, Alessandra Tessa, et al.
Neuromuscular Disorders : NMD|October 23, 2013
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemiaChiara Fiorillo, Francesca Moro, Guja Astrea, et al.
Biochemical and Biophysical Research Communications|January 11, 2015
A rare mutation in MYH7 gene occurs with overlapping phenotypeLucia Ruggiero, Chiara Fiorillo, Sara Gibertini, et al.
DNA and Cell Biology|November 3, 2018
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 GeneChiara Fiorillo, Maria Rosaria D'Apice, Federica Trucco, et al.
Pageof 15

Showing results (31-40 of 142) with videos related to

Sort By:
Pageof 15
Intensive & Critical Care Nursing|October 17, 2024
Simulated haemodynamic parameters and different infusion set-up affect drug delivery during syringe pump change over: A bench-top study in a laboratory settingAlberto Lucchini, Stefano Elli, Alessia Burgazzi, et al.
Seizure|July 7, 2019
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature reviewThea Giacomini, Livia Pisciotta, Giulia Prato, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 15, 2012
De novo FTL mutation: a clinical, neuroimaging, and molecular studyEugenia Storti, Francesca Cortese, Roberto Di Fabio, et al.
JIMD Reports|March 2, 2017
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 MutationFrancesca Minoia, Marta Bertamino, Paolo Picco, et al.
Pediatric Neurology|January 1, 2016
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular DystrophyRiccardo Papa, Francesca Madia, Domenico Bartolomeo, et al.
Journal of Neurology|April 19, 2018
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutationsMariasavina Severino, Susanna Lualdi, Chiara Fiorillo, et al.
Muscle & Nerve|September 27, 2014
Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA geneLucia Ruggiero, Chiara Fiorillo, Alessandra Tessa, et al.
Neuromuscular Disorders : NMD|October 23, 2013
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemiaChiara Fiorillo, Francesca Moro, Guja Astrea, et al.
Biochemical and Biophysical Research Communications|January 11, 2015
A rare mutation in MYH7 gene occurs with overlapping phenotypeLucia Ruggiero, Chiara Fiorillo, Sara Gibertini, et al.
DNA and Cell Biology|November 3, 2018
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 GeneChiara Fiorillo, Maria Rosaria D'Apice, Federica Trucco, et al.
Pageof 15