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Filtri: First Letter Of Title è S and Autore is d'Adamo, Pio  [Clear All Filters]
Journal Article
Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, d'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M. Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 2010;86(4):639-49.
Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MAJH, Kuijjer ML, Oosting J, Cleton-Jansen A-M, van Oosterwijk JG, Verbeke SLJ, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom L-G, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JVMG. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet 2011;43(12):1256-61.

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