P795: CHARACTERIZATION OF ERCC6L2 SYNDROME PATIENTS’ TRANSCRIPTOME

por Douglas, S. P., Kaaja, I., Räisänen, T. H., Pitkänen, E., Kilpivaara, O., Wartiovaara-Kautto, U.
Publicado 2022

P797: METABOLIC PROFILING IN ERCC6L2 AND SHWACHMAN DIAMOND SYNDROME

por Kaaja, I., Douglas, S. P., Räisänen, T. H., Haimilahti, K., Nieminen, A. I., Pirinen, E., Wartiovaara-Kautto, U., Kilpivaara, O.
Publicado 2022

IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis

por Tefferi, A, Lasho, T L, Abdel-Wahab, O, Guglielmelli, P, Patel, J, Caramazza, D, Pieri, L, Finke, C M, Kilpivaara, O, Wadleigh, M, Mai, M, McClure, R F, Gilliland, D G, Levine, R L, Pardanani, A, Vannucchi, A M
Publicado 2010

Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer

por Kämpjärvi, K, Mäkinen, N, Kilpivaara, O, Arola, J, Heinonen, H-R, Böhm, J, Abdel-Wahab, O, Lehtonen, H J, Pelttari, L M, Mehine, M, Schrewe, H, Nevanlinna, H, Levine, R L, Hokland, P, Böhling, T, Mecklin, J-P, Bützow, R, Aaltonen, L A, Vahteristo, P
Publicado 2012