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Davide Mei

Showing results (31-40 of 110) with videos related to

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American Journal of Medical Genetics. Part A|July 3, 2007
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutationRoberta Battini, Anna Chilosi, Davide Mei, et al.
Journal of Medical Genetics|March 11, 2015
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effectsElena Parrini, Davide Mei, Maria Antonietta Pisanti, et al.
Epilepsia|September 29, 2009
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathyDavide Mei, Carla Marini, Francesca Novara, 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.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 14, 2021
CDKL5 deficiency disorder in males: Five new variants and review of the literatureBarbara Siri, Costanza Varesio, Elena Freri, 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.
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.
Epilepsia|April 13, 2011
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutationsNicola Specchio, Carla Marini, Alessandra Terracciano, et al.
Annals of Neurology|October 12, 2013
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsyMaurizio De Fusco, Riccardo Vago, Pasquale Striano, et al.
Pageof 11

Showing results (31-40 of 110) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|July 3, 2007
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutationRoberta Battini, Anna Chilosi, Davide Mei, et al.
Journal of Medical Genetics|March 11, 2015
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effectsElena Parrini, Davide Mei, Maria Antonietta Pisanti, et al.
Epilepsia|September 29, 2009
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathyDavide Mei, Carla Marini, Francesca Novara, 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.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 14, 2021
CDKL5 deficiency disorder in males: Five new variants and review of the literatureBarbara Siri, Costanza Varesio, Elena Freri, 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.
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.
Epilepsia|April 13, 2011
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutationsNicola Specchio, Carla Marini, Alessandra Terracciano, et al.
Annals of Neurology|October 12, 2013
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsyMaurizio De Fusco, Riccardo Vago, Pasquale Striano, et al.
Pageof 11