Search
Add filters:
Use filters to refine the search results.
Results 1-3 of 3 (Search time: 0.005 seconds).
- previous
- 1
- next
Item hits:
Issue Date | Title | Author(s) |
---|---|---|
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 |
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 |
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 |