EPIRARE survey on activities and needs of rare disease registries in the European Union

by Taruscio Domenica, Gainotti Sabina, Vittozzi Luciano, Bianchi Fabrizio, Ensini Monica, Posada Manuel
Published 2012-11-01

Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease

by Gómez-Mariano, Gema, Matamala, Nerea, Martínez, Selene, Justo, Iago, Marcacuzco, Alberto, Jimenez, Carlos, Monzón, Sara, Cuesta, Isabel, Garfia, Cristina, Martínez, María Teresa, Huch, Meritxell, Pérez de Castro, Ignacio, Posada, Manuel, Janciauskiene, Sabina, Martínez-Delgado, Beatriz
Published 2020

Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease.

by Gómez-Mariano, Gema, Matamala, Nerea, Martínez, Selene, Justo, Iago, Marcacuzco, Alberto, Jimenez, Carlos, Monzón, Sara, Cuesta, Isabel, Garfia, Cristina, Martínez, María Teresa, Huch, Meritxell, Pérez de Castro, Ignacio, Posada, Manuel, Janciauskiene, Sabina, Martínez-Delgado, Beatriz
Published 2020

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

by de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, Rodenburg, Richard J., Coenen, Marieke J. H., Janssen, Mirian, Henssen, Dylan, Paramonov, Ida, Trimouille, Aurélien, Kleefstra, Tjitske, Vissers, Lisenka E. L. M., Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Gilissen, Christian, Johari, Mridul, Laurie, Steven, Li, Shuang, Nelson, Isabelle, Peters, Sophia, Prasanth, Sivakumar, Robinson, Peter, Sablauskas, Karolis, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vitobello, Antonio, Banka, Siddharth, Benetti, Elisa, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Faivre, Laurence, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Lindstrand, Anna, López-Martín, Estrella, Macek, Milan, Jr., Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Verloes, Alain, Vissers, Lisenka, Vyshka, Klea, Zurek, Birte
Published 2021