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| Issue Date | Title | Author(s) |
|---|---|---|
| 22-Feb-2019 | Case report of a child bearing a novel deleterious splicing variant in PIGT | Manson, Samantha; Castilla Vallmanya, Laura; Con, James; Andrews, P. Ian; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Kirk, E.P.; Urreizti, Roser |
| 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 |
| 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 |
| 2-Mar-2019 | C syndrome - what do we know and what could the future hold? | Urreizti, Roser; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 4-May-2017 | GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates | Roca Ayats, Neus; Balcells Comas, Susana; Garcia Giralt, Natàlia; Falcó-Mascaró, Maite; Martinez-Gil, Nuria; Abril Ferrando, Josep Francesc, 1970-; Urreizti, Roser; Dopazo, Joaquin; Quesada Gómez, José Manuel; Nogués Solán, Xavier; Mellibovsky, Leonardo; Prieto-Alhambra, Daniel; Dunford, James E.; Javaid, Muhammad K.; Russell, R. Graham; Grinberg Vaisman, Daniel Raúl; Diez Pérez, Adolfo |
| 24-Dec-2014 | Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations | Matos, Liliana; Canals Montferrer, Isaac; Dridi, Larbi; Choi, Yoo; Prata, Maria Joao; Jordan, Peter; Desviat, Lourdes R.; Pérez, Belén; Pshezhetsky, Alexey V.; Grinberg Vaisman, Daniel Raúl; Alves, Sandra; Vilageliu i Arqués, Lluïsa |
| 10-Nov-2015 | MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones | De-Ugarte, Laura; Yoskovitz, Guy; Balcells Comas, Susana; Güerri-Fernández, Robert; Martínez-Díaz, Santos; Mellibovsky, Leonardo; Urreizti, Roser; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Garcia Giralt, Natàlia; Díez Pérez, Adolfo |
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