Browsing by Author Domenech Salgado, Laura
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) |
|---|---|---|
| 26-Apr-2019 | eDiVA - Classification and prioritization of pathogenic variants for clinical diagnostics | Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas, Francesc; Rabionet Janssen, Raquel; Bezdan, Daniela; Domenech Salgado, Laura; Hor, Hyun G.; Schott, Jean-Jacques; Munell Casadesús, Francina; Colobran, Roger; Macaya Ruiz, Alfons; Estivill, Xavier, 1955-; Ossowski, Stephan |
| 31-May-2018 | Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery | Kumar, Raman; Gardner, Alison; Homan, Claire C.; Douglas, Evelyn; Mefford, Heather; Wieczorek, Dagmar; Luedecke, Hermann-Josef; Stark, Zornitza; Sadedin, Simon; Nowak, Catherine Bearce; Douglas, Jessica; Parsons, Gretchen; Mark, Paul; Loidi, Lourdes; Herman, Gail E.; Mihalic Mosher, Theresa; Gillespie, Meredith K.; Brady, Lauren; Tarnopolsky, Mark; Madrigal Bajo, Irene; Eiris, Jesus; Domenech Salgado, Laura; Rabionet Janssen, Raquel; Strom, Tim M.; Ishihara, Naoko; Inagaki, Hidehito; Kurahashi, Hiroki; Dudding-Byth, Tracy; Palmer, Elizabeth E.; Field, Michael; Gecz, Jozef |