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收藏分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
Malaquias, Maria Joao; Braz, Luis; Silva, Claudia Santos; Damasio, Joana; Jorge, Andre; Lemos, Joao M.; Campos, Catarina F.; Garcez, Daniela; Oliveira Santos, Miguel; Velon, Ana G.; Caetano, Andre; Calejo, Margarida; Fernandes, Preza; Rego, Angela; Castro, Sandra; Sousa, Ana P.; Cardoso, Marcio Neves; Fernandes, Marco; Pinto, Miguel M.; Taipa, Ricardo; Lopes, Ana M.; Oliveira, Jorge; Magalhaes, Marina 分享 收藏 Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias非扩张性脊髓小脑共济失调的极端表型异质性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-Hubsch, 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; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicityCheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aime; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amalia; Vogt, Julie; de Munnik, Sonja A.; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Goncalves, Ana R.; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L.; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Sacoto, Maria J. Guillen; Douglas, Ganka; Alexander, Nora; Buckley, Michael F.; Mark, Paul R.; Ades, Lesley C.; Sandaradura, Sarah A.; Lupski, James R.; Roscioli, Tony; Agrawal, Pankaj B.; Kline, Antonie D.; Wang, Kai; Timmers, H. T. Marc; Lyon, Gholson J. 分享 收藏 分享 收藏 Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproductionPereira, R.; Oliveira, M. E.; Santos, R.; Oliveira, E.; Barbosa, T.; Santos, T.; Goncalves, P.; Ferraz, L.; Pinto, S.; Barros, A.; Oliveira, J.; Sousa, M. 分享 收藏 Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencingBastida, Jose Maria; Morais, Sara; Palma-Barqueros, Veronica; Benito, Rocio; Bermejo, Nuria; Karkucak, Mutlu; Trapero-Marugan, Maria; Bohdan, Natalia; Pereira, Monica; Marin-Quilez, Ana; Oliveira, Jorge; Yucel, Yusuf; Santos, Rosario; Padilla, Jose; Janusz, Kamila; Lau, Catarina; Martin-Izquierdo, Marta; Couto, Eduarda; Francisco Ruiz-Pividal, Juan; Vicente, Vicente; Maria Hernandez-Rivas, Jesus; Ramon Gonzalez-Porras, Jose; Luisa Lozano, Maria; Lima, Margarida; Rivera, Jose 分享 收藏 
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