THOMAS, Simon Rhys
THOMAS, Simon Rhys
MATEMATICA "GIUSEPPE PEANO"
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| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum | 2025 | Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle |