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Neurology|January 25, 2022
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related EpilepsiesAndreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, et al.
European Journal of Human Genetics : EJHG|September 6, 2019
Copy number variants in lipid metabolism genes are associated with gallstones disease in menEduardo Pérez-Palma, Bernabé I Bustos, Dennis Lal, et al.
Ebiomedicine|June 9, 2022
The role of common genetic variation in presumed monogenic epilepsiesCiarán Campbell, Costin Leu, Yen-Chen Anne Feng, et al.
Epilepsia|January 26, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding regionMcKenna Kelly, Meredith Park, Ivana Mihalek, et al.
Nature Communications|July 12, 2019
Paternal-age-related de novo mutations and risk for five disordersJacob L Taylor, Jean-Christophe P G Debost, Sarah U Morton, et al.
Plos One|August 28, 2018
Rare gene deletions in genetic generalized and Rolandic epilepsiesKamel Jabbari, Dheeraj R Bobbili, Dennis Lal, et al.
NPJ Parkinson'S Disease|August 1, 2025
Large-scale copy number variant analysis in genes linked to Parkinson´s diseaseZied Landoulsi, Katja Lohmann, Eva-Juliane Vollstedt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2024
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individualsPeter D Galer, Shridhar Parthasarathy, Julie Xian, et al.
Nature Communications|January 26, 2019
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern FinlandMitja I Kurki, Elmo Saarentaus, Olli Pietiläinen, et al.
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