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Renzo Guerrini

Showing results (281-290 of 611) with videos related to

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British Journal of Haematology|April 26, 2024
Neurodegeneration in patients with multisystem Langerhans cell histiocytosis treated with vemurafenibIrene Trambusti, Francesco Pegoraro, Stefania Gaspari, et al.
Epilepsy & Behavior : E&B|January 1, 2018
Symptoms of anxiety and depression and family's quality of life in children and adolescents with epilepsyCarlo Cianchetti, Elisa Bianchi, Renzo Guerrini, et al.
JIMD Reports|February 23, 2013
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose IntoleranceLorenzo Ferri, Anna Caciotti, Catia Cavicchi, et al.
Molecular Genetics and Metabolism|March 18, 2018
Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142]Martino 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.
Scientific Reports|June 12, 2020
Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment lengthBarbara Iadarola, Luciano Xumerle, Denise Lavezzari, et al.
Molecular Genetics and Metabolism|November 13, 2019
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overviewAnna Caciotti, Federico Melani, Rodolfo Tonin, et al.
European Journal of Mass Spectrometry (Chichester, England)|January 1, 2014
Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis IDaniela Ombrone, Sabrina Malvagia, Silvia Funghini, et al.
Epilepsia|February 6, 2010
Characteristics of a large population of patients with refractory epilepsy attending tertiary referral centers in ItalyVeriano Alexandre, Giuseppe Capovilla, Cinzia Fattore, et al.
Cerebral Cortex (New York, N.Y. : 1991)|June 21, 2023
Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndromeMatteo Lenge, Simona Balestrini, Davide Mei, et al.
Pageof 62

Showing results (281-290 of 611) with videos related to

Sort By:
Pageof 62
British Journal of Haematology|April 26, 2024
Neurodegeneration in patients with multisystem Langerhans cell histiocytosis treated with vemurafenibIrene Trambusti, Francesco Pegoraro, Stefania Gaspari, et al.
Epilepsy & Behavior : E&B|January 1, 2018
Symptoms of anxiety and depression and family's quality of life in children and adolescents with epilepsyCarlo Cianchetti, Elisa Bianchi, Renzo Guerrini, et al.
JIMD Reports|February 23, 2013
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose IntoleranceLorenzo Ferri, Anna Caciotti, Catia Cavicchi, et al.
Molecular Genetics and Metabolism|March 18, 2018
Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142]Martino 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.
Scientific Reports|June 12, 2020
Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment lengthBarbara Iadarola, Luciano Xumerle, Denise Lavezzari, et al.
Molecular Genetics and Metabolism|November 13, 2019
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overviewAnna Caciotti, Federico Melani, Rodolfo Tonin, et al.
European Journal of Mass Spectrometry (Chichester, England)|January 1, 2014
Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis IDaniela Ombrone, Sabrina Malvagia, Silvia Funghini, et al.
Epilepsia|February 6, 2010
Characteristics of a large population of patients with refractory epilepsy attending tertiary referral centers in ItalyVeriano Alexandre, Giuseppe Capovilla, Cinzia Fattore, et al.
Cerebral Cortex (New York, N.Y. : 1991)|June 21, 2023
Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndromeMatteo Lenge, Simona Balestrini, Davide Mei, et al.
Pageof 62