Browsing by Author Gürsoy, Semra
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) |
|---|---|---|
| 4-Feb-2021 | De Novo PORCN and ZIC2 mutations in a highly consanguineous family | Castilla Vallmanya, Laura; Gürsoy, Semra; Giray Bozkaya, Özlem; Prat Planas, Aina; Bullich, Gemma; Matalonga Borrel, Lesley; Centeno Pla, Mónica; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Urreizti, Roser |
| 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 |