Susanna Balcells
11PUBLICATIONS
48CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (11)
Sort by Publication Date:
|Jun 11, 2025
Rare Variant Association Analysis Uncovers Involvement of VNN2 in Stroke Outcome.Estefanía Alcaide-Consuegra, Marina Mola-Caminal, Georgia Escaramís
|May 27, 2024
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans.Neus Roca-Ayats, Iago Maceda, Carlos David Bruque
|Mar 28, 2024
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson
|Oct 15, 2022
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano
|Apr 23, 2022
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.Arístides López-Márquez, Matías Morín, Sergio Fernández-Peñalver
|Apr 18, 2022
Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.Núria Martínez-Gil, Diana Ovejero, Natalia Garcia-Giralt
Pageof 2
Frequent Collaborators
8 joint publications
Daniel Grinberg
6 joint publications
Raquel Rabionet
5 joint publications
Núria Martínez-Gil
5 joint publications
Natàlia Garcia-Giralt
3 joint publications
Neus Roca-Ayats
3 joint publications
Carlos David Bruque
2 joint publications
Aina Prat-Planas
2 joint publications
Nerea Ugartondo
2 joint publications
Mónica Centeno-Pla
2 joint publications
Diana Ovejero
