Browsing by Author Buxbaum, Joseph
Showing results 1 to 1 of 1
| Preview | Title | Author(s) | Issue Date | Type |
|---|---|---|---|---|
| Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review | Pavinato, Lisa; Trajkova, Slavica; Grosso, Enrico; Giorgio, Elisa; Bruselles, Alessandro; Radio, Francesca Clementina; Pippucci, Tommaso; Dimartino, Paola; Tartaglia, Marco; Petlichkovski, Aleksandar ; De Rubeis, Silvia; Buxbaum, Joseph; Ferrero, Giovanni Battista; Keller, Roberto; Brusco, Alfredo | Jun-2021 | Article |