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Epilepsy & Behavior : E&B
|
July 14, 2019
What is the role of next generation sequencing in status epilepticus?
Renzo Guerrini, Elena Parrini, Carla Marini, et al.
Molecular Diagnosis & Therapy
|
February 16, 2017
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients
Davide Mei, Elena Parrini, Carla Marini, et al.
Epilepsia
|
January 7, 2020
Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies
Davide Mei, Valentina Cetica, Carla Marini, et al.
Epilepsia
|
October 24, 2006
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy
Carla Marini, Davide Mei, J Helen Cross, et al.
Neurogenetics
|
October 2, 2004
Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia
Elena Parrini, Davide Mei, Micheal Wright, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
May 3, 2023
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1
Davide Mei, Elena Parrini, Claudia Bianchini, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms
Valerio Conti, Carla Marini, Davide Mei, et al.
European Journal of Human Genetics : EJHG
|
February 16, 2012
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations
Renzo Guerrini, Davide Mei, Duccio Maria Cordelli, et al.
American Journal of Medical Genetics. Part A
|
September 2, 2024
Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene
Elena Parrini, Simona Balestrini, Domenico Rutigliano, et al.
Brain & Development
|
July 22, 2009
Diffuse subcortical band heterotopia, periodic limb movements during sleep and a novel "de novo" mutation in the DCX gene
Pasquale Parisi, Silvia Miano, Davide Mei, et al.
Page
of 11
Search research articles
Search
Showing results (1-10 of 110) with videos related to
Sort By:
Page
of 11
Epilepsy & Behavior : E&B
|
July 14, 2019
What is the role of next generation sequencing in status epilepticus?
Renzo Guerrini, Elena Parrini, Carla Marini, et al.
Molecular Diagnosis & Therapy
|
February 16, 2017
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients
Davide Mei, Elena Parrini, Carla Marini, et al.
Epilepsia
|
January 7, 2020
Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies
Davide Mei, Valentina Cetica, Carla Marini, et al.
Epilepsia
|
October 24, 2006
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy
Carla Marini, Davide Mei, J Helen Cross, et al.
Neurogenetics
|
October 2, 2004
Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia
Elena Parrini, Davide Mei, Micheal Wright, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
May 3, 2023
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1
Davide Mei, Elena Parrini, Claudia Bianchini, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms
Valerio Conti, Carla Marini, Davide Mei, et al.
European Journal of Human Genetics : EJHG
|
February 16, 2012
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations
Renzo Guerrini, Davide Mei, Duccio Maria Cordelli, et al.
American Journal of Medical Genetics. Part A
|
September 2, 2024
Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene
Elena Parrini, Simona Balestrini, Domenico Rutigliano, et al.
Brain & Development
|
July 22, 2009
Diffuse subcortical band heterotopia, periodic limb movements during sleep and a novel "de novo" mutation in the DCX gene
Pasquale Parisi, Silvia Miano, Davide Mei, et al.
Page
of 11