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American Journal of Medical Genetics. Part A
|
May 16, 2003
Subcortical band heterotopia with simplified gyral pattern and syndactyly
Federico Sicca, Margherita Silengo, Elena Parrini, et al.
Epilepsia
|
November 20, 2008
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations
Elena Parrini, Anna Rita Ferrari, Thomas Dorn, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
November 1, 2018
Diaper changing-induced reflex seizures in CDKL5-related epilepsy
Roberta Solazzi, Elena Fiorini, Elena Parrini, 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.
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.
Neurocase
|
May 21, 2024
Continuous spike-wave of slow sleep in a patient with <i>KCNB1</i>-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature
Giulia Ferrera, Emilia Ricci, Angela Peron, et al.
American Journal of Medical Genetics. Part A
|
October 23, 2018
PRICKLE1-related early onset epileptic encephalopathy
Mario Mastrangelo, Manuela Tolve, Martina Martinelli, et al.
Pediatric Neurology
|
November 19, 2022
A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy
Marianna Alagia, Simona Fecarotta, Alfonso Romano, et al.
Journal of Medical Genetics
|
July 31, 2024
Double gonosomal mosaicism as an unusual hereditary mechanism in familial <i>GRIN2A</i>-related disorder
Valentina Cetica, Mara Cavallin, Maria Luisa Ricci, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
September 29, 2021
Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome
Roberta Solazzi, Elena Fiorini, Elena Parrini, et al.
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of 9
Search research articles
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Showing results (11-20 of 82) with videos related to
Sort By:
Page
of 9
American Journal of Medical Genetics. Part A
|
May 16, 2003
Subcortical band heterotopia with simplified gyral pattern and syndactyly
Federico Sicca, Margherita Silengo, Elena Parrini, et al.
Epilepsia
|
November 20, 2008
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations
Elena Parrini, Anna Rita Ferrari, Thomas Dorn, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
November 1, 2018
Diaper changing-induced reflex seizures in CDKL5-related epilepsy
Roberta Solazzi, Elena Fiorini, Elena Parrini, 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.
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.
Neurocase
|
May 21, 2024
Continuous spike-wave of slow sleep in a patient with <i>KCNB1</i>-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature
Giulia Ferrera, Emilia Ricci, Angela Peron, et al.
American Journal of Medical Genetics. Part A
|
October 23, 2018
PRICKLE1-related early onset epileptic encephalopathy
Mario Mastrangelo, Manuela Tolve, Martina Martinelli, et al.
Pediatric Neurology
|
November 19, 2022
A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy
Marianna Alagia, Simona Fecarotta, Alfonso Romano, et al.
Journal of Medical Genetics
|
July 31, 2024
Double gonosomal mosaicism as an unusual hereditary mechanism in familial <i>GRIN2A</i>-related disorder
Valentina Cetica, Mara Cavallin, Maria Luisa Ricci, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
September 29, 2021
Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome
Roberta Solazzi, Elena Fiorini, Elena Parrini, et al.
Page
of 9