Last Updated: 09/26/2026
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Found 21 publications
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
Journal: medRxiv : the preprint server for health sciences
Published: March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
Journal: medRxiv : the preprint server for health sciences
Published: March 13, 2026
Genotype-specific communication profiles in 79,518 individuals with neurodevelopmental disorders.
Journal: medRxiv : the preprint server for health sciences
Published: February 12, 2026
Genotype-specific communication profiles in 79,518 individuals with neurodevelopmental disorders.
Journal: medRxiv : the preprint server for health sciences
Published: February 12, 2026
Cook4Keto: Bridging culinary expertise and clinical practice to improve adherence to ketogenic diet therapy in drug-refractory epilepsy.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: February 07, 2026
Widening participation in the International League Against Epilepsy: Looking to the future.
Journal: Epilepsia open
Published: December 09, 2025
Survey of burnout in U.S. Epilepsy physicians.
Journal: Epilepsy & behavior : E&B
Published: September 23, 2025
Expanding the Phenotype of TLK2-Related Neurodevelopmental Disorder: Longitudinal Presentation in Two Young Adult Females.
Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Published: August 10, 2025
Epilepsy disease classification: a community effort to enhance the Mondo Disease Ontology.
Journal: Database : the journal of biological databases and curation
Published: July 10, 2025
Intraoperative electrocorticography in awake brain surgery: comparing three electrode configurations for detecting stimulus-induced and spontaneous epileptiform activity.
Journal: Journal of neurosurgery
Published: May 05, 2025
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Journal: Neurology
Published: January 30, 2025
Last Updated: 09/26/2026