| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 4-ene-2023 | Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome | Piceci-Sparascio, Francesca; Micale, Lucía; Torres, Bárbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'Asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Darío; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Pérez, Victor L. CSIC ORCID; Tartaglia, Marco; Castori, Marco; Luca, Alessandro De | artículo |
| openAccess |  | dic-2019 | Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking | Piccolo, Pasquale; Sabatino, Valeria; Mithbaokar, Pratibha; Polishchucka, Elena; Law, Simon K.; Magraner-Pardo, Lorena; Pons, Tirso CSIC ORCID ; Polishchuck, Roman; Brunetti-Pierri, Nicola | artículo |
| openAccess |  | 6-dic-2022 | Human iPSC-hepatocyte modeling of alpha-1 antitrypsin heterozygosity reveals metabolic dysregulation and cellular heterogeneity | Kaserman, Joseph E.; Werder, Rhiannon B.; Wang, Feiya; Matte, Taylor; Higgins, Michelle I.; Dodge, Mark; Lindstrom-Vautrin, Jonathan; Bawa, Pushpinder; Hinds, Anne; Bullitt, Esther; Caballero, Ignacio S.; Shi, Xu; Gerszten, Robert E.; Brunetti-Pierri, Nicola; Liesa, Marc CSIC ORCID ; Villacorta-Martin, Carlos; Hollenberg, Anthony N.; Kotton, Darrell N.; Wilson, Andrew A. | artículo |
| openAccess |  | 6-dic-2022 | Human iPSC-hepatocyte modeling of alpha-1 antitrypsin heterozygosity reveals metabolic dysregulation and cellular heterogeneity [Dataset] | Kaserman, Joseph E.; Werder, Rhiannon B.; Wang, Feiya; Matte, Taylor; Higgins, Michelle I.; Dodge, Mark; Lindstrom-Vautrin, Jonathan; Bawa, Pushpinder; Hinds, Anne; Bullitt, Esther; Caballero, Ignacio S.; Shi, Xu; Gerszten, Robert E.; Brunetti-Pierri, Nicola; Liesa, Marc CSIC ORCID ; Villacorta-Martin, Carlos; Hollenberg, Anthony N.; Kotton, Darrell N.; Wilson, Andrew A. | dataset |
