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Browsing Articles (Departament de Medicina i Ciències de la Vida) by Author "Nadif Kasri, Nael"

Browsing Articles (Departament de Medicina i Ciències de la Vida) by Author "Nadif Kasri, Nael"

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  • Awamleh, Zain; Choufani, Sanaa; Wu, Wendy; Rots, Dmitrijs; Dingemans, Alexander J. M.; Nadif Kasri, Nael; Boronat i Llop, Susanna, 1965-; Ibáñez-Micó, Salvador; Cuesta Herraiz, Laura; Ferrer, Irene; Martínez Carrascal, Antonio; Pérez Jurado, Luis Alberto; Aznar Laín, Gemma; Ortigoza Escobar, Juan Darío; de Vries, Bert B. A.; Koolen, David A.; Weksberg, Rosanna (Nature Research, 2024)
    Pathogenic variants in KANSL1 and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial dysmorphia. Our previous work has shown that syndromic ...

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