Browsing by Author Dallapiccola, Bruno


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Showing results 3 to 4 of 4 < previous 
Issue DateTitleAuthor(s)
2021SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotypeMotta, Marialetizia; Fasano, Giulia; Gredy, Sina; Brinkmann, Julia; Bonnard, Adeline Alice; Simsek-Kiper, Pelin Ozlem; Gulec, Elif Yilmaz; Essaddam, Leila; Utine, Gulen Eda; Guarnetti Prandi, Ingrid; Venditti, Martina; Pantaleoni, Francesca; Radio, Francesca Clementina; Ciolfi, Andrea; Petrini, Stefania; Consoli, Federica; Vignal, Cédric; Hepbasli, Denis; Ullrich, Melanie; de Boer, Elke; Vissers, Lisenka E L M; Gritli, Sami; Rossi, Cesare; De Luca, Alessandro; Ben Becher, Saayda; Gelb, Bruce D; Dallapiccola, Bruno; Lauri, Antonella; Chillemi, Giovanni ; Schuh, Kai; Cavé, Hélène; Zenker, Martin; Tartaglia, Marco
2023Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessmentNurchis, Mario Cesare; Altamura, Gerardo; Riccardi, Maria Teresa; Radio, Francesca Clementina; Chillemi, Giovanni ; Bertini, Enrico Silvio; Garlasco, Jacopo; Tartaglia, Marco; Dallapiccola, Bruno; Damiani, Gianfranco