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Affichage: 2 résultats.
    • Article de périodique
    Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
    Lardelli, Rea M Schaffer, Ashleigh E Eggens, Veerle R C Zaki, Maha S Grainger, Stephanie Sathe, Shashank Van Nostrand, Eric L Schlachetzki, Zinayida Rosti, Basak Akizu, Naiara Scott, Eric Silhavy, Jennifer L Heckman, Laura Dean Rosti, Rasim Ozgur Dikoglu, Esra Gregor, Anne Guemez-Gamboa, Alicia Musaev, Damir Mande, Rohit Widjaja, Ari Shaw, Tim L Markmiller, Sebastian Marin-Valencia, Isaac Davies, Justin H de Meirleir, Linda Kayserili, Hulya Altunoglu, Umut Freckmann, Mary Louise Warwick, Linda Chitayat, David Blaser, Susan Çağlayan, Ahmet Okay Bilguvar, Kaya Per, Huseyin Fagerberg, Christina Christesen, Henrik T Kibaek, Maria Aldinger, Kimberly A Manchester, David Matsumoto, Naomichi Muramatsu, Kazuhiro Saitsu, Hirotomo Shiina, Masaaki Ogata, Kazuhiro Foulds, Nicola Dobyns, William B Chi, Neil C Traver, David Spaccini, Luigina Bova, Stefania Maria Gabriel, Stacey B Gunel, Murat Valente, Enza Maria Nassogne, Marie-Cécile[UCL] Bennett, Eric J Yeo, Gene W Baas, Frank Lykke-Andersen, Jens Gleeson, Joseph G (2017) Nature Genetics — Vol. 49, no. 3, p. 457-464 (2017)
    • Article de périodique
    Tumor Spectrum in Children With Noonan Syndrome and SOS1 or RAF1 Mutations
    Denayer, Ellen[UCL] Devriendt, Koen[UCL] de Ravel, Thomy[UCL] Van Buggenhout, Griet[UCL] Smeets, Eric[UCL] Francois, Inge[UCL] Sznajer, Yves Craen, Margarita Leventopoulos, George Mutesa, Leon Vandecasseye, Willy[UCL] Massa, Guy Kayserili, Hulya Sciot, Raf[UCL] Fryns, Jean-Pierre[UCL] Legius, Eric[UCL] (2010) Genes, Chromosomes & Cancer — Vol. 49, no. 3, p. 242-252 (2010)