Browsing by Author "Natera de Benito, Daniel"

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  • Urreizti, Roser; López Martín, Estrella; Martínez Monseny, Antonio Federico; Pujadas, Montse; Castilla-Vallmanya, Laura; Pérez Jurado, Luis Alberto; Serrano, Mercedes L.; Natera de Benito, Daniel; Martínez Delgado, Beatriz; Posada de la Paz, Manuel; Alonso, Javier; Marín Reina, Purificación; O'Callaghan, Mar; Grinberg, Daniel; Bermejo Sánchez, Eva; Balcells, Susana (BioMed Central, 2020)
    Background: Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and ...
  • Codina, Anna; Roldán, Mònica; Natera de Benito, Daniel; Ortez, Carlos; Planas, Robert; Matalonga, Leslie; Cuadras, Daniel; Carrera, Laura; Exposito, Jesica; Marquez, Jesus; Jimenez-Mallebrera, Cecilia; Porta, Josep M.; Nascimento, Andrés; Jou-Muñoz, Cristina (MDPI, 2023)
    Several clinical trials are working on drug development for Duchenne and Becker muscular dystrophy (DMD and BMD) treatment, and, since the expected increase in dystrophin is relatively subtle, high-sensitivity quantification ...

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