OREFICE, MARTINA Statistiche

OREFICE, MARTINA  

DIPARTIMENTO DI BIOLOGIA  

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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia 1-gen-2025 Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A.; Pfundt, Rolph; De Boer, Elke; Vissers, Lisenka E. L. M.; Gardeitchik, Thatjana; Aarts, Lonneke A. M.; Rinne, Tuula; Terhal, Paulien A.; Verbeek, Nienke E.; Zuurbier, Linda C.; Plomp, Astrid S.; Wessels, Marja W.; De Man, Stella A.; Bouman, Arjan; Bird, Lynne M.; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J.; Person, Richard; Gooch, Catherine; Hurst, Anna C. E.; Thompson, Michelle L.; Hiatt, Susan M.; Littlejohn, Rebecca O.; Roeder, Elizabeth R.; Mori, Mari; Hickey, Scott; Hunter, Jesse M.; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T.; Taylan, Fulya; Mäkitie, Riikka E.; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A.; Kerkhof, Jennifer; Mcconkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J.; Hildebrand, Michael; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M.; Pérez-Jurado, Luis A.; Sevilla-Porras, Marta; Black, Douglas; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio