The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome

por Urreizti, Roser, Gürsoy, Semra, Castilla‐Vallmanya, Laura, Cunill, Guillem, Rabionet, Raquel, Erçal, Derya, Grinberg, Daniel, Balcells, Susana
Publicado 2018

Case report of a child bearing a novel deleterious splicing variant in PIGT

por Mason, Samantha, Castilla-Vallmanya, Laura, James, Con, Andrews, P. Ian, Balcells, Susana, Grinberg, Daniel, Kirk, Edwin P., Urreizti, Roser
Publicado 2019

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family

por Castilla-Vallmanya, Laura, Gürsoy, Semra, Giray-Bozkaya, Özlem, Prat-Planas, Aina, Bullich, Gemma, Matalonga, Leslie, Centeno-Pla, Mónica, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna, Urreizti, Roser
Publicado 2021

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

por Urreizti, Roser, Damanti, Sarah, Esteve, Carla, Franco-Valls, Héctor, Castilla-Vallmanya, Laura, Tonda, Raul, Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcells, Susana
Publicado 2018

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development

por Benetó, Noelia, Cozar, Monica, Castilla-Vallmanya, Laura, Zetterdahl, Oskar G., Sacultanu, Madalina, Segur-Bailach, Eulalia, García-Morant, María, Ribes, Antonia, Ahlenius, Henrik, Grinberg, Daniel, Vilageliu, Lluïsa, Canals, Isaac
Publicado 2020

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

por Castilla-Vallmanya, Laura, Centeno-Pla, Mónica, Serrano, Mercedes, Franco-Valls, Héctor, Martínez-Cabrera, Raúl, Prat-Planas, Aina, Rojano, Elena, Ranea, Juan A G, Seoane, Pedro, Oliva, Clara, Paredes-Fuentes, Abraham J, Marfany, Gemma, Artuch, Rafael, Grinberg, Daniel, Rabionet, Raquel, Balcells, Susanna, Urreizti, Roser
Publicado 2023

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

por Urreizti, Roser, Lopez-Martin, Estrella, Martinez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, Pérez-Jurado, Luis Alberto, Serrano, Mercedes, Natera-de Benito, Daniel, Martínez-Delgado, Beatriz, Posada-de-la-Paz, Manuel, Alonso, Javier, Marin-Reina, Purificación, O’Callaghan, Mar, Grinberg, Daniel, Bermejo-Sánchez, Eva, Balcells, Susanna
Publicado 2020