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Renzo Guerrini

Showing results (211-220 of 611) with videos related to

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Frontiers in Endocrinology|August 7, 2025
Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axesGiulia Del Medico, Lorenzo Ferri, Elena Procopio, et al.
European Journal of Medical Genetics|June 30, 2023
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-upMartino Montomoli, Annalisa Vetro, Flavia Tubili, et al.
Acta Neuropathologica|November 1, 2002
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortexAkiyoshi Kakita, Shintaro Hayashi, Francesca Moro, et al.
Orphanet Journal of Rare Diseases|October 29, 2020
SARS-CoV-2 infection in a patient with propionic acidemiaAnna Caciotti, Elena Procopio, Francesca Pochiero, et al.
Journal of Pharmaceutical and Biomedical Analysis|August 17, 2010
Rapid assay of rufinamide in dried blood spots by a new liquid chromatography-tandem mass spectrometric methodGiancarlo la Marca, Sabrina Malvagia, Luca Filippi, et al.
BMC Medical Genetics|March 4, 2014
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screeningMaria Marchese, Valerio Conti, Giulia Valvo, et al.
Developmental Medicine and Child Neurology|October 18, 2005
Pallister-Killian syndrome: an unusual cause of epileptic spasmsRocio Sánchez-Carpintero, Ailsa McLellan, Lucio Parmeggiani, et al.
BMC Medical Genomics|January 22, 2021
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case reportFrancesca Peluso, Viviana Palazzo, Giuseppe Indolfi, et al.
Advances in Neurology|October 29, 2004
Treatment of myoclonic epilepsies in infancy and early childhoodRaman Sankar, James W Wheless, Charlotte Dravet, et al.
Epilepsia|November 22, 2007
Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient dataBehrouz Kassaï, Catherine Chiron, Ségolène Augier, et al.
Pageof 62

Showing results (211-220 of 611) with videos related to

Sort By:
Pageof 62
Frontiers in Endocrinology|August 7, 2025
Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axesGiulia Del Medico, Lorenzo Ferri, Elena Procopio, et al.
European Journal of Medical Genetics|June 30, 2023
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-upMartino Montomoli, Annalisa Vetro, Flavia Tubili, et al.
Acta Neuropathologica|November 1, 2002
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortexAkiyoshi Kakita, Shintaro Hayashi, Francesca Moro, et al.
Orphanet Journal of Rare Diseases|October 29, 2020
SARS-CoV-2 infection in a patient with propionic acidemiaAnna Caciotti, Elena Procopio, Francesca Pochiero, et al.
Journal of Pharmaceutical and Biomedical Analysis|August 17, 2010
Rapid assay of rufinamide in dried blood spots by a new liquid chromatography-tandem mass spectrometric methodGiancarlo la Marca, Sabrina Malvagia, Luca Filippi, et al.
BMC Medical Genetics|March 4, 2014
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screeningMaria Marchese, Valerio Conti, Giulia Valvo, et al.
Developmental Medicine and Child Neurology|October 18, 2005
Pallister-Killian syndrome: an unusual cause of epileptic spasmsRocio Sánchez-Carpintero, Ailsa McLellan, Lucio Parmeggiani, et al.
BMC Medical Genomics|January 22, 2021
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case reportFrancesca Peluso, Viviana Palazzo, Giuseppe Indolfi, et al.
Advances in Neurology|October 29, 2004
Treatment of myoclonic epilepsies in infancy and early childhoodRaman Sankar, James W Wheless, Charlotte Dravet, et al.
Epilepsia|November 22, 2007
Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient dataBehrouz Kassaï, Catherine Chiron, Ségolène Augier, et al.
Pageof 62