Browsing by Author Pérez-Jurado, Luis Alberto
Showing results 1 to 8 of 8
| Issue Date | Title | Author(s) |
|---|---|---|
| 28-Jun-2018 | bigSCale: an analytical framework for big-scale single-cell data | Iacono, Giovanni; Mereu, Elisabetta; Guillaumet-Adkins, Amy; Corominas Castiñeira, Roser; Cuscó, Ivon; Rodríguez Esteban, Gustavo; Gut, Marta; Pérez-Jurado, Luis Alberto; Gut, Ivo G.; Heyn, Holger |
| 2022 | Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions | Ovejero, Diana; Garcia-Giralt, Natalia; Rabionet Janssen, Raquel; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Pérez-Jurado, Luis Alberto; Nogués, Xavier; Etxebarria Foronda, Iñigo |
| May-2008 | Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion | Cuscó, Ivon; Corominas Castiñeira, Roser; Bayés Colomer, Mònica; Flores, Raquel; Rivera Brugués, Núria; Campuzano Uceda, María Victoria; Pérez-Jurado, Luis Alberto |
| 19-Nov-2020 | Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome | Kuebler, B.; Aran, B.; Flores, R.; Pérez-Jurado, Luis Alberto; Veiga, A.; Cuscó, Ivon; Corominas Castiñeira, Roser |
| 2010 | Essential role of the N-terminal region of TFII-I in viability and behavior | Lucena, Jaume; Pezzi, Susana; Aso Pérez, Ester; Valero, Maria C.; Carreiro, Candelas; Dubus, Pierre; Sampaio, Adriana; Segura, Maria; Barthelemy, Isabel; Zindel, Marc Y.; Sousa, Nuno; Barbero, José L.; Maldonado, Rafael, 1961-; Pérez-Jurado, Luis Alberto; Campuzano Uceda, María Victoria |
| 10-Feb-2020 | Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum | Urreizti, Roser; López-Martin, Estrella; Martínez-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 Vaisman, Daniel Raúl; Bermejo-Sánchez, Eva; Balcells Comas, Susana |
| 16-Nov-2020 | Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion) | Kuebler, B.; Aran, B.; Flores, R.; Pérez-Jurado, Luis Alberto; Veiga, A.; Corominas Castiñeira, Roser; Cuscó, Ivon |
| May-2022 | Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases | Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Tonda, Raúl; Artuch, Rafael; Gallano, Pia; Garrabou Tornos, Glòria; González, Juan R.; Grinberg Vaisman, Daniel Raúl; Guitart, Míriam; Laurie, Steven; Lázaro García, Conxi; Luengo, Critina; Martí, Ramon; Milà, Montserrat; Ovelleiro, David; Parra, Genís; Pujol, Aurora, 1968-; Tizzano Ferrari, Eduardo; Macaya, Alfonso; Palau, Francesc; Ribes, Antonio; Pérez-Jurado, Luis Alberto; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.; Rabionet Janssen, Raquel; Balcells Comas, Susana |