Browsing by Author Artuch, Rafael
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) |
|---|---|---|
| 5-Dec-2023 | Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study | Gràcia-Garcia, Silvia; Mayayo Vallverdú, Clara; Prat, Esther; Vecino-Pérez, Marta; González, Laura; San Miguel, Luz; Lopera, Noelia; Arias, Ángela; Artuch, Rafael; López de Heredia, Miguel; Torrecilla, Carlos; Rousaud-Barón, Ferran; Angerri, Oriol; Errasti-Murugarren, Ekaitz; Nunes Martínez, Virginia |
| 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, Conxi; Luengo, Critina; Martí, Ramon; Milà, Montserrat; Ovelleiro, David; Parra, Genís; Pujol, Aurora; Tizzano, Eduardo; Macaya, Alfonso; Palau, Francesc; Ribes, Antonio; Pérez-Jurado, Luis A.; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.; Rabionet Janssen, Raquel; Balcells Comas, Susana |