Browsing by Author Matalonga Borrel, Lesley
Showing results 1 to 4 of 4
Issue Date | Title | Author(s) |
---|---|---|
15-Apr-2016 | Búsqueda de nuevas estrategias y agentes terapéuticos en enfermedades metabólicas hereditarias | Matalonga Borrel, Lesley |
13-Feb-2018 | Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction | Guitart Mampel, Mariona; González Tendero, Anna; Niñerola, S.; Morén Núñez, Constanza; Catalán García, Marc; González Casacuberta, Ingrid; Juárez Flores, Diana Luz; Ugarteburu López, Olatz; Matalonga Borrel, Lesley; Cascajo, M. V.; Tort, Frederic; Cortés, A.; Tobías, Ester; Milisenda, José; Grau Junyent, Josep M. (Josep Maria); Crispi Brillas, Fàtima; Gratacós Solsona, Eduard; Garrabou Tornos, Glòria; Cardellach, Francesc |
4-Feb-2021 | De Novo PORCN and ZIC2 mutations in a highly consanguineous family | Castilla Vallmanya, Laura; Gürsoy, Semra; Giray Bozkaya, Özlem; Prat-Planas, Aina; Bullich, Gemma; Matalonga Borrel, Lesley; Centeno-Pla, Mónica; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Urreizti, Roser |
1-Sep-2020 | Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity | Matalonga Borrel, Lesley; Laurie, Steven; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez Jurado, Luis A.; Riess, Olaf; Gut, Ivo; van Ommen, Gert Jan; Lochmüller, Hanns; Beltrán, Sergi; Rare Disease-Connect Genome-Phenome Analysis Platform data contributors; Undiagnosed Rare Disease Programme of Catalonia data contibutors; Cormand Rifà, Bru; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Urreizti, Roser; Garrabou Tornos, Glòria |