IBF Instituto Biofisika
Centre
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications en collaboration avec des chercheurs de 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