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Allan Bayat

Showing results (61-70 of 130) with videos related to

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Developmental Medicine and Child Neurology|January 26, 2022
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort studyAllan Bayat, Angel Aledo-Serrano, Antonio Gil-Nagel, et al.
Neurogenetics|November 27, 2021
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 geneBerardo Rinaldi, Yu-Han Ge, Elena Freri, et al.
Neurogenetics|November 3, 2021
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 geneBerardo Rinaldi, Yu-Han Ge, Elena Freri, et al.
Frontiers in Genetics|May 28, 2021
Deep-Phenotyping the Less Severe Spectrum of <i>PIGT</i> Deficiency and Linking the Gene to Myoclonic Atonic SeizuresAllan Bayat, Manuela Pendziwiat, Ewa Obersztyn, et al.
Epilepsia|January 29, 2025
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsyNoor Smal, Charissa Millevert, Matthias De Wachter, et al.
Epilepsy Research|January 28, 2021
Deciphering the premature mortality in PIGA-CDG - An untold storyAllan Bayat, Marius Kløvgaard, Katrine M Johannesen, et al.
Bioinformatics (Oxford, England)|April 27, 2023
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants onlineMarie Macnee, Eduardo Pérez-Palma, Tobias Brünger, et al.
Plos Genetics|June 23, 2021
X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3Jia-Hui Sun, Jiang Chen, Fernando Eduardo Ayala Valenzuela, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2023
A new neurodevelopmental disorder linked to heterozygous variants in UNC79Allan Bayat, Zhenjiang Liu, Sheng Luo, et al.
Epilepsia|February 18, 2025
Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort studyMatthias De Wachter, Charissa Millevert, Joost Nicolai, et al.
Pageof 13

Showing results (61-70 of 130) with videos related to

Sort By:
Pageof 13
Developmental Medicine and Child Neurology|January 26, 2022
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort studyAllan Bayat, Angel Aledo-Serrano, Antonio Gil-Nagel, et al.
Neurogenetics|November 27, 2021
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 geneBerardo Rinaldi, Yu-Han Ge, Elena Freri, et al.
Neurogenetics|November 3, 2021
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 geneBerardo Rinaldi, Yu-Han Ge, Elena Freri, et al.
Frontiers in Genetics|May 28, 2021
Deep-Phenotyping the Less Severe Spectrum of <i>PIGT</i> Deficiency and Linking the Gene to Myoclonic Atonic SeizuresAllan Bayat, Manuela Pendziwiat, Ewa Obersztyn, et al.
Epilepsia|January 29, 2025
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsyNoor Smal, Charissa Millevert, Matthias De Wachter, et al.
Epilepsy Research|January 28, 2021
Deciphering the premature mortality in PIGA-CDG - An untold storyAllan Bayat, Marius Kløvgaard, Katrine M Johannesen, et al.
Bioinformatics (Oxford, England)|April 27, 2023
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants onlineMarie Macnee, Eduardo Pérez-Palma, Tobias Brünger, et al.
Plos Genetics|June 23, 2021
X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3Jia-Hui Sun, Jiang Chen, Fernando Eduardo Ayala Valenzuela, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2023
A new neurodevelopmental disorder linked to heterozygous variants in UNC79Allan Bayat, Zhenjiang Liu, Sheng Luo, et al.
Epilepsia|February 18, 2025
Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort studyMatthias De Wachter, Charissa Millevert, Joost Nicolai, et al.
Pageof 13