Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | sep-2018 | 2018 CIC Samples KCNQ2 exon 7 partial duplication fastq files | Lazo, Pedro A. CSIC ORCID ; García-Hernández, Juan L.; Gómez-Puertas, Paulino CSIC ORCID ; Marcos-Alcalde, Íñigo CSIC ORCID; Arjona, César; Villarroel, Álvaro CSIC ORCID; González-Sarmiento, Rogelio CSIC ORCID ; Fons, Carmen | dataset |
| | 2-mar-2024 | MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants | Saez-Matia, Alba; Ibarluzea, Markel G.; M-Alicante, Sara; Muguruza-Montero, Arantza CSIC ORCID; Nuñez, Eider; Ramis, Rafael; Ballesteros, Oscar R. CSIC ORCID; Lasa-Goicuria, Diego; Fons, Carmen; Gallego, Mónica; Casis, Oscar; Leonardo, Aritz; Bergara, Aitor CSIC ORCID; Villarroel, Alvaro | artículo |
openAccess | | 23-jun-2020 | Novel dominant KCNQ2 exon 7 partial in-frame duplication in a complex epileptic and neurodevelopmental delay syndrome | Lazo, Pedro A. CSIC ORCID ; García, Juan L. CSIC ORCID CVN ; Gómez-Puertas, Paulino CSIC ORCID ; Marcos-Alcalde, Íñigo CSIC ORCID; Arjona, César; Villarroel, Álvaro CSIC ORCID; González-Sarmiento, Rogelio CSIC ORCID ; Fons, Carmen | artículo |
openAccess | | 23-jun-2020 | Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome | Lazo, Pedro A. CSIC ORCID ; García, Juan L. CSIC ORCID CVN ; Gómez-Puertas, Paulino CSIC ORCID ; Marcos-Alcalde, Íñigo CSIC ORCID; Arjona, César; Vallarroel, Alvaro; González-Sarmiento, Rogelio CSIC ORCID ; Fons, Carmen | artículo |
openAccess | | 2021 | Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome | García-Hernández, Juan L.; Corchete, Luis A.; Marcos-Alcalde, Íñigo CSIC ORCID; Gómez-Puertas, Paulino CSIC ORCID ; Fons, Carmen; Lazo, Pedro A. CSIC ORCID | artículo |
closedAccess | | jul-2023 | Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy | Casas-Alba, Dídac; Aguilar, Anna; Alonso, Itziar; García, María Teresa; Cilio, Maria Roberta; Fons, Carmen; BIO-KCNQ2-Spanish Study Group; Villarroel, Álvaro CSIC ORCID | artículo |