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| Issue Date | Title | Author(s) |
|---|---|---|
| 12-Jan-2018 | A de novo FOXP1 truncating mutation in a patient originally diagnosed as C Syndrome | Urreizti, Roser; Damanti, Sarah; Esteve, Carla; Franco Valls, Héctor; Castilla Vallmanya, Laura; Tonda, Raul; Cormand Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 19-Jul-2018 | Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density | Martínez-Gil, Núria; Roca Ayats, Neus; Monistrol-Mula, A.; Garcia Giralt, Natàlia; Díez Pérez, Adolfo; Nogués Solán, Xavier; Mellibovsky, Leonardo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 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 |
| 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 |
| 2018 | Estudios funcionales de variantes de DKK1 presentes en la población general | Martínez-Gil, Núria; Roca Ayats, Neus; Vilardell, M.; Civit Vives, Sergi; Urreizti, Roser; Garcia Giralt, Natàlia; Mellibovsky, Leonardo; Nogués Solán, Xavier; Díez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 1-Dec-2018 | Functional characterization of a GGPPS variant indentified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types | Roca Ayats, Neus; Ng, Pei Ying; Garcia Giralt, Natàlia; Falcó-Mascaró, Maite; Cozar, Mónica; Abril Ferrando, Josep Francesc, 1970-; Quesada Gómez, José Manuel; Prieto-Alhambra, Daniel; Nogués Solán, Xavier; Dunford, James E.; Russell, R. Graham; Baron, Roland; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Diez Pérez, Adolfo |
| 29-Aug-2018 | Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study | Trajanoska, Katerina; Morris, John A.; Oei, Ling; Zheng, Hou-Feng; Evans, David M.; Kiel, Douglas P.; Ohlsson, Claes; Richards, J. Brent; Rivadeneira, Fernando; GEFOS/GENOMOS consortium; 23andMe Research Team; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl |
| 1-Nov-2018 | Genetic study of atypical femoral fractures using exome sequencing in three affected sisters and three unrelated patients | Roca Ayats, Neus; Falcó-Mascaró, Maite; Garcia Giralt, Natàlia; Cozar, Mónica; Abril Ferrando, Josep Francesc, 1970-; Quesada Gómez, José Manuel; Prieto-Alhambra, Daniel; Nogués Solán, Xavier; Mellibovsky, Leonardo; Diez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
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