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Mario Mastrangelo

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American Journal of Medical Genetics. Part A|February 24, 2011
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1Martino Ruggieri, Mario Mastrangelo, Alberto Spalice, et al.
Molecular Genetics and Metabolism|August 19, 2015
The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term studyMario Mastrangelo, Flavia Chiarotti, Luana Berillo, et al.
Epilepsy & Behavior : E&B|May 30, 2025
Suggestive seizure induction techniques in paediatric functional/dissociative seizures: an extensive protocolValentina Baglioni, Dario Esposito, Serena Cesario, et al.
European Journal of Medical Genetics|December 1, 2018
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disordersMario Mastrangelo, Stefano Sartori, Alessandro Simonati, et al.
Molecular Genetics and Metabolism|September 4, 2021
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteinsCarmen Longo, Riccardo Montioli, Giovanni Bisello, et al.
Seizure|June 8, 2024
Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort studyMario Mastrangelo, Carlo Greco, Manuela Tolve, et al.
Biochemical and Biophysical Research Communications|August 29, 2012
WT1 CpG islands methylation in human lung cancer: a pilot studyPierdonato Bruno, Giovanna Gentile, Rita Mancini, et al.
Molecular Genetics and Metabolism|August 19, 2017
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutationMartino L di Salvo, Mario Mastrangelo, Isabel Nogués, et al.
Data in Brief|January 31, 2018
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, et al.
Children (Basel, Switzerland)|September 28, 2023
Natural Course of <i>IQSEC2</i>-Related Encephalopathy: An Italian National Structured SurveySilvia Leoncini, Lidia Boasiako, Diego Lopergolo, et al.
Pageof 9

Showing results (51-60 of 84) with videos related to

Sort By:
Pageof 9
American Journal of Medical Genetics. Part A|February 24, 2011
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1Martino Ruggieri, Mario Mastrangelo, Alberto Spalice, et al.
Molecular Genetics and Metabolism|August 19, 2015
The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term studyMario Mastrangelo, Flavia Chiarotti, Luana Berillo, et al.
Epilepsy & Behavior : E&B|May 30, 2025
Suggestive seizure induction techniques in paediatric functional/dissociative seizures: an extensive protocolValentina Baglioni, Dario Esposito, Serena Cesario, et al.
European Journal of Medical Genetics|December 1, 2018
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disordersMario Mastrangelo, Stefano Sartori, Alessandro Simonati, et al.
Molecular Genetics and Metabolism|September 4, 2021
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteinsCarmen Longo, Riccardo Montioli, Giovanni Bisello, et al.
Seizure|June 8, 2024
Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort studyMario Mastrangelo, Carlo Greco, Manuela Tolve, et al.
Biochemical and Biophysical Research Communications|August 29, 2012
WT1 CpG islands methylation in human lung cancer: a pilot studyPierdonato Bruno, Giovanna Gentile, Rita Mancini, et al.
Molecular Genetics and Metabolism|August 19, 2017
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutationMartino L di Salvo, Mario Mastrangelo, Isabel Nogués, et al.
Data in Brief|January 31, 2018
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, et al.
Children (Basel, Switzerland)|September 28, 2023
Natural Course of <i>IQSEC2</i>-Related Encephalopathy: An Italian National Structured SurveySilvia Leoncini, Lidia Boasiako, Diego Lopergolo, et al.
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