학술논문
'학술논문'
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1~10
Academic Journal
Moura, João; Samões, Raquel; Cardoso, Márcio; Sousa, Ana Paula; Damásio, Joana; Marinho, António; Carneiro, Paula; Neves, Esmeralda; Silva, Ana Martins; Santos, Ernestina
In Clinical Neurology and Neurosurgery November 2023 234
Academic Journal
Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hübsch, Tanja; Doss, Sarah; Van Velzen, Gijs A.J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Van de Warrenburg, Bart; Schöls, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra
In The American Journal of Human Genetics 6 July 2023 110(7):1098-1109
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes
Academic Journal
Neri, Sabrina; Maia, Nuno; Fortuna, Ana M.; Damasio, Joana; Coale, Elizabeth; Willis, Mary; Jorge, Paula; Højte, Anne F.; Fenger, Christina D.; Møller, Rikke S.; Bayat, Allan
In European Journal of Medical Genetics November 2022 65(11)
Academic Journal
Academic Journal
Klockgether, Thomas; Synofzik, Matthis; Alhusaini, Saud; Anheim, Mathieu; Antonijevic, Irina; Ashizawa, Tee; Bataller, Luis; Berard, Mélanie; Bertini, Enrico; Boesch, Sylvia; Braga-Neto, Pedro; Cassou, Emanuel; Chan, Edwin; Chuang, Rosalind; Collins, Abbie; Damásio, Joana; Donis, Karina; Duquette, Antoine; Durães, João; Durr, Alexandra
Academic Journal
MOURA, João; MALAQUIAS, Maria João; JORGE, Firmina; PINTO, Eduarda; SARDOEIRA, Ana; LARANJINHA, Inês; OLIVEIRA, Vanessa; SOUSA, Ana Paula; DAMÁSIO, Joana; MAIA, Luís; VILA-CHÃ, Nuno; SAMÕES, Raquel; TAIPA, Ricardo; MARTINS DA SILVA, Ana; SANTOS, Ernestina
Acta Médica Portuguesa; Jun2024, Vol. 37 Issue 6, p429-435, 7p
Academic Journal
Beijer, Danique; Fogel, Brent L.; Beltran, Sergi; Danzi, Matt C.; Németh, Andrea H.; Züchner, Stephan; Synofzik, Matthis; AGI Ataxia NGS genomics, platforms Working Group; Adarmes, Astrid; Alhusaini, Saud; Ashrafi, Mahmoud Reza; Bataller, Luis; Bertini, Enrico; Boesch, Sylvia; Buijsen, Ronald; Cassou, Emanuel; Chan, Edwin; Damásio, Joana; Donis, Karina; Elert-Dobkowska, Ewelina
Academic Journal
Moura, João; Oliveira, Jorge; Santos, Mariana; Costa, Sara; Silva, Lénia; Lemos, Carolina; Barros, José; Sequeiros, Jorge; Damásio, Joana
The Cerebellum. :1-11
Academic Journal
Gonçalves, Alexandra; Mendes, Alexandre; Damásio, Joana; Vila-Chã, Nuno; Boleixa, Daniela; Leal, Bárbara; Cavaco, Sara
Academic Journal
Moura, Joao; Oliveira, Jorge; Santos, Mariana; Costa, Sara; Silva, Lenia; Lemos, Carolina; Barros, Jose; Sequeiros, Jorge; Damasio, Joana
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[AR] Damásio, Joana
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