Search Results - "Cuesta Herraiz, Laura"

A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells by Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J M, Nadif Khadri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A, Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B A, Koolen, David A, Weksberg, Rosanna

“…Pathogenic variants in KANSL1 and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic…”
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Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells by Awamleh, Zain, Choufani, Sanaa, Wu, Wendy, Rots, Dmitrijs, Dingemans, Alexander J M, Nadif Kasri, Nael, Boronat, Susana, Ibañez-Mico, Salvador, Cuesta Herraiz, Laura, Ferrer, Irene, Martínez Carrascal, Antonio, Pérez-Jurado, Luis A, Aznar Lain, Gemma, Ortigoza-Escobar, Juan Dario, de Vries, Bert B A, Koolen, David A, Weksberg, Rosanna

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