Aina Prat-Planas

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 4

Top Topics

Dna Methylation

Congenital Heart Disease

Genome Wide Identification

Top Venues

Journal of medical genetics

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson, Aina Prat-Planas, Juan Diego Gutiérrez-Ávila, Daniel Grinberg, Roser Urreizti, Raquel Rabionet Janssen, Susanna Balcells
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome. Journal of medical genetics 61 (8) (2024)
Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson, Aina Prat-Planas, Juan Diego Gutiérrez-Ávila, Daniel Grinberg, Roser Urreizti, Raquel Rabionet Janssen, Susanna Balcells
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome. Journal of medical genetics (2024)
Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A G Ranea, Pedro Seoane, Clara Oliva, Abraham J Paredes-Fuentes, Gemma Marfany, Rafael Artuch, Daniel Grinberg, Raquel Rabionet Janssen, Susanna Balcells, Roser Urreizti
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. Journal of medical genetics (2022)
Laura Castilla-Vallmanya, Semra Gürsoy, Özlem Giray-Bozkaya, Aina Prat-Planas, Gemma Bullich, Leslie Matalonga, Mónica Centeno-Pla, Raquel Rabionet Janssen, Daniel Grinberg, Susanna Balcells, Roser Urreizti
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family. International journal of molecular sciences 22 (4) (2021)