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Bioinformatics (Oxford, England)|May 26, 2021
SimText: a text mining framework for interactive analysis and visualization of similarities among biomedical entitiesMarie Macnee, Eduardo Pérez-Palma, Sarah Schumacher-Bass, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 31, 2022
Data-driven historical characterization of epilepsy-associated genesMarie Macnee, Eduardo Pérez-Palma, Javier A López-Rivera, et al.Brain : a Journal of Neurology|October 18, 2022
Delineation of functionally essential protein regions for 242 neurodevelopmental genesSumaiya Iqbal, Tobias Brünger, Eduardo Pérez-Palma, et al.Nature Communications|July 20, 2023
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individualsLudovica Montanucci, David Lewis-Smith, Ryan L Collins, 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.Brain : a Journal of Neurology|October 13, 2022
The genomic landscape across 474 surgically accessible epileptogenic human brain lesionsJavier A López-Rivera, Costin Leu, Marie Macnee, et al.Brain : a Journal of Neurology|August 30, 2023
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisArthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, et al.Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant ClassificationTobias Brünger, Ilona Krey, Suyeon Kim, et al.Pageof 1