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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
July 17, 2024
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol
Simone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, et al.
Brain : a Journal of Neurology
|
April 3, 2023
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition
Helena Martins Custodio, Lisa M Clayton, Ravishankara Bellampalli, et al.
Annals of Neurology
|
July 21, 2021
Postictal Psychosis in Epilepsy: A Clinicogenetic Study
Vera Braatz, Helena Martins Custodio, Costin Leu, et al.
Epilepsia
|
December 21, 2024
Rare dysfunctional SCN2A variants are associated with malformation of cortical development
Jérôme Clatot, Christopher H Thompson, Susan Sotardi, et al.
Brain Communications
|
November 3, 2021
K.Vita: a feasibility study of a blend of medium chain triglycerides to manage drug-resistant epilepsy
Natasha E Schoeler, Michael Orford, Umesh Vivekananda, et al.
Epilepsy & Behavior : E&B
|
December 6, 2020
Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy
Simona Balestrini, Matthias J Koepp, Sonia Gandhi, et al.
Epilepsia
|
May 3, 2022
Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions
Elaine C Wirrell, Rima Nabbout, Ingrid E Scheffer, et al.
Epilepsia Open
|
August 23, 2024
Italian report on RARE epilepsies (i-RARE): A consensus on multidisciplinarity
Antonella Riva, Antonietta Coppola, Francesca Bisulli, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
April 27, 2021
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies
Simona Balestrini, Daniela Chiarello, Maria Gogou, et al.
American Journal of Human Genetics
|
May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities
Claudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.
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of 12
Search research articles
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Showing results (81-90 of 119) with videos related to
Sort By:
Page
of 12
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
July 17, 2024
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol
Simone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, et al.
Brain : a Journal of Neurology
|
April 3, 2023
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition
Helena Martins Custodio, Lisa M Clayton, Ravishankara Bellampalli, et al.
Annals of Neurology
|
July 21, 2021
Postictal Psychosis in Epilepsy: A Clinicogenetic Study
Vera Braatz, Helena Martins Custodio, Costin Leu, et al.
Epilepsia
|
December 21, 2024
Rare dysfunctional SCN2A variants are associated with malformation of cortical development
Jérôme Clatot, Christopher H Thompson, Susan Sotardi, et al.
Brain Communications
|
November 3, 2021
K.Vita: a feasibility study of a blend of medium chain triglycerides to manage drug-resistant epilepsy
Natasha E Schoeler, Michael Orford, Umesh Vivekananda, et al.
Epilepsy & Behavior : E&B
|
December 6, 2020
Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy
Simona Balestrini, Matthias J Koepp, Sonia Gandhi, et al.
Epilepsia
|
May 3, 2022
Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions
Elaine C Wirrell, Rima Nabbout, Ingrid E Scheffer, et al.
Epilepsia Open
|
August 23, 2024
Italian report on RARE epilepsies (i-RARE): A consensus on multidisciplinarity
Antonella Riva, Antonietta Coppola, Francesca Bisulli, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
April 27, 2021
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies
Simona Balestrini, Daniela Chiarello, Maria Gogou, et al.
American Journal of Human Genetics
|
May 31, 2025
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities
Claudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, et al.
Page
of 12