Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
closedAccess | | 2018 | Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome | Niceta, Marcello; Margiotti, Katia; Digilio, Maria Christina; Guida, Valentina; Bruselles, Alessandro; Pizzi, Simone; Ferraris, Alessandro; Memo, Luigi; Laforgia, Nicola; Dentici, Maria Lisa; Consoli, Francesco; Torrente, Isabella; Ruiz-Pérez, Victor L. CSIC ORCID; Dallapiccola, Bruno; Marino, B.; De Luca, Alessandro; Tartaglia. M. | artículo |
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 |
closedAccess | | dic-2020 | Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene | Piceci-Sparascio, Francesca; Palencia-Campos, Adrián CSIC; Soto‐Bielicka, Patricia CSIC; D'Anzi, Angela; Guida, Valentina; Rosati, Jessica; Caparrós-Martín, José A. CSIC; Torrente, Isabella; D'Asdia, M. Cecilia; Versacci, Paolo; Briuglia, Silvana; Lapunzina, Pablo; Tartaglia. M.; Marino, B.; Digilio, Maria Christina; Ruiz-Pérez, Victor L. CSIC ORCID; Luca, Alessandro De | artículo |
closedAccess | | 5-nov-2020 | Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome | Palencia-Campos, Adrián CSIC; Aoto, Phillip C.; Machal, Erik M.F.; Rivera-Barahona, Ana CSIC; Soto-Bielicka, Patricia; Bertinetti, Daniela; Baker, Blaine; Vu, Lily; Piceci-Sparascio, Francesca; Torrente, Isabella; Boudin, Eveline; Peeters, Silke; Hul, Wim Van; Huber, Céline; Bonneau, Dominique; Hildebrand, Michael S.; Coleman, Matthew; Bahlo, Melanie; Bennett, Mark F.; Schneider, Amy L.; Scheffer, Ingrid E.; Kibæk, Maria; Kristiansen, Britta S.; Issa, Mahmoud; Mehrez, Mennat I.; Ismail, Samira; Tenorio, Jair; Li, Gaoyang; Steen Skålhegg, Bjørn; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Jønch, Aia E.; Luca, Alessandro De; Mortier, Geert; Cormier-Daire, Valérie; Ziegler, A.; Wallis, Mathew; Lapunzina, Pablo; Herberg, Friedrich W.; Taylor, Susan S. T.; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |