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| 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 |
| 14-Mar-2019 | Biallelic loss-of-function LACC1/FAMIN mutations presenting as rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | Rabionet Janssen, Raquel; Remesal, Agustín; Mensa-Vilaró, Anna; Murías, Sara; Alcobendas, Rosa; González-Roca, Eva; Ruiz Ortiz, Estíbaliz; Antón, Jordi; Iglesias Jiménez, Estíbaliz; Modesto, Consuelo; Comas, David; Puig, Anna; Drechsel, Oliver; Ossowski, Stephan; Yagüe, Jordi; Merino, Rosa; Estivill, Xavier, 1955-; Aróstegui Gorospe, Juan Ignacio |
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