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| Issue Date | Title | Author(s) |
|---|---|---|
| 2022 | Genetic analysis in a familial case with high bone mineral density suggests additive effects at two loci | Martínez-Gil, Núria; Ovejero, Diana; Garcia Giralt, Natàlia; Bruque, Carlos David; Mellibovsky, Leonardo; Nogués, Xavier; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 20-Apr-2020 | Effect of the tumor suppressor miR-320a on viability and functionality of human osteosarcoma cell lines compared to primary osteoblasts | De-Ugarte, Laura; Balcells Comas, Susana; Güerri Fernández, Robert; Grinberg Vaisman, Daniel Raúl; Diez-Perez, Adolfo; Nogués Solán, Xavier; Garcia Giralt, Natàlia |
| 10-Jun-2018 | The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz syndrome | Urreizti, Roser; Gürsoy, Semra; Castilla-Vallmanya, Laura; Cunill, Guillem; Rabionet Janssen, Raquel; Erçal, Derya; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 26-Feb-2013 | Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas | Sarrión Pérez-Caballero, Patricia; Sangorrin, A.; Urreizti, Roser; Delgado, A.; Artuch Iriberri, Rafael; Martorell, L.; Armstrong i Morón, Judith; Antón López, Jordi; Torner Rubies, Ferran; Vilaseca, M. A.; Nevado, J.; Lapunzina, Pablo; Asteggiano, Carla; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl |
| 13-Jan-2022 | Wnt pathway extracellular components and their essential roles in bone homeostasis | Martínez-Gil, Núria; Ugartondo, Nerea; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 14-Oct-2015 | Activity and high-order effective connectivity alterations in Sanfilippo C patient-specific neuronal networks | Canals Montferrer, Isaac; Soriano i Fradera, Jordi; Orlandi, Javier G.; Torrent Juan, Roger; Richaud-Patin, Yvonne; Jiménez-Delgado, Senda; Merlin, Simone; Follenzi, Antonia; Consiglio, Antonella; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Raya Chamorro, Ángel |
| 22-Oct-2020 | Sanfilippo syndrome: molecular basis, disease models and therapeutic approaches | Benetó, Noelia; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Canals Montferrer, Isaac |
| 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 |
| Jan-2020 | Bone development and remodeling in metabolic disorders | Serra Vinardell, Jenny; Roca Ayats, Neus; Ugarte, Laura de; Vilageliu i Arqués, Lluïsa; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl |
| 18-Sep-2014 | A broad spectrum of genomic changes in Latinamerican patients with EXT1/EXT2-CDG | Delgado, M. A.; Martinez-Domenech, G.; Sarrión Pérez-Caballero, Patricia; Urreizti, Roser; Zecchini, L.; Robledo, H. H.; Segura, F.; Dodelson de Kremer, Raquel; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Asteggiano, Carla |
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