Browsing by Author Balcells Comas, Susana
Showing results 50 to 56 of 56
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| Issue Date | Title | Author(s) |
|---|---|---|
| 30-Nov-2021 | Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques | Rauner, Martina; Foessl, Ines; Formosa, Melissa M.; Kague, Erika; Prijatelj, Vid; Alonso-Lopez, Nerea; Banerjee, Bodhisattwa; Bergen, Dylan; Busse, Björn; Calado, Ângelo; Douni, Eleni; Gabet, Yankel; Garcia Giralt, Natàlia; Grinberg Vaisman, Daniel Raúl; Lovsin, Nika M.; Nogués Solán, Xavier; Ostanek, Barbara; Pavlos, Nathan J.; Rivadeneira, Fernando; Soldatovic, Ivan; van de Peppel, Jeroen; van der Eerden, Bram; van Hul, Wim; Balcells Comas, Susana; Marc, Janja; Reppe, Sjur; Soe, Kent; Karasik, David |
| 7-May-2020 | Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 | Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clémantine; Rabionet Janssen, Raquel; Blanco-Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R.F.; van Essen, Antoine J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, J effrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Urreizti, Roser |
| 28-Nov-2018 | Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress | Ugarte, Laura de; Balcells Comas, Susana; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Díez Pérez, Adolfo; Garcia Giralt, Natalia |
| 12-Mar-2021 | Role of Wnt pathway genes in complex and monogenic phenotypes of low and high bone mass | Martínez-Gil, Núria |
| 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 |
| 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 |
| 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 |