IBF Instituto Biofisika
Zentrum
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Raras (4)
2023
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Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
Pediatric Neurology, Vol. 144, pp. 11-15
2020
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Novel dominant kcnq2 exon 7 partial in-frame duplication in a complex epileptic and neurodevelopmental delay syndrome
International Journal of Molecular Sciences, Vol. 21, Núm. 12, pp. 1-11
2015
2008
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A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression
Human Genetics, Vol. 123, Núm. 1, pp. 41-53