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Fetal ciliopathies: a retrospective observational single-center studySimonini, Corinna ; Floeck, Anne ; Strizek, Brigitte ; Mueller, Andreas ; Gembruch, Ulrich ; Geipel, AnnegretArchives of gynecology and obstetrics, 2022-07, Vol.306 (1), p.71-83 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Large sphenoid mucocele presenting with cranial neuropathies in a 10-year-old boy: case report and literature reviewChang, Henry ; Silva, Michael ; Weng, John ; Reilly, Erin ; Levine, Corinna ; McCrea, Heather J.Child's nervous system, 2022-05, Vol.38 (5), p.1035-1039 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Single-agent ibrutinib in RESONATE-2™ and RESONATE™ versus treatments in the real-world PHEDRA databases for patients with chronic lymphocytic leukemiaSalles, Gilles ; Bachy, Emmanuel ; Smolej, Lukas ; Simkovic, Martin ; Baseggio, Lucile ; Panovska, Anna ; Besson, Hervé ; Healy, Nollaig ; Garside, Jamie ; Iraqi, Wafae ; Diels, Joris ; Pick-Lauer, Corinna ; Spacek, Martin ; Urbanova, Renata ; Lysak, Daniel ; Hermans, Ruben ; Lundbom, Jessica ; Callet-Bauchu, Evelyne ; Doubek, MichaelAnnals of hematology, 2019-12, Vol.98 (12), p.2749-2760 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseasesPosset, Roland ; Garbade, Sven F. ; Boy, Nikolas ; Burlina, Alberto B. ; Dionisi‐Vici, Carlo ; Dobbelaere, Dries ; Garcia‐Cazorla, Angeles ; de Lonlay, Pascale ; Teles, Elisa Leão ; Vara, Roshni ; Mew, Nicholas Ah ; Batshaw, Mark L. ; Baumgartner, Matthias R. ; McCandless, Shawn E. ; Seminara, Jennifer ; Summar, Marshall ; Hoffmann, Georg F. ; Kölker, Stefan ; Burgard, Peter ; Berry, Susan A. ; Burrage, Lindsay ; Coughlin, Curtis ; Diaz, George A. ; Gallagher, Renata C. ; Gropman, Andrea ; Harding, Cary O. ; Lee, Brendan ; Le Mons, Cynthia ; Lawrence Merritt, J. ; Nagamani, Sandesh C. S. ; Schulze, Andreas ; Stricker, Tamar ; Tuchman, Mendel ; Waisbren, Susan ; WeisfeldAdams, James ; Wong, Derek ; Yudkoff, Marc ; Arnoux, JeanBaptiste ; Bari, Ivo ; Bosch, Annet M. ; Chabrol, Brigitte ; Chakrapani, Anupam ; CortèsSaladefont, Elisenda ; Couce, Maria L. ; Eyskens, Francois ; Laet, Corine ; Meirleir, Linda ; Freisinger, Peter ; Gleich, Florian ; Grünewald, Stephanie ; Häberle, Johannes ; Hwu, WuhLiang ; Jalan, Anil ; Karall, Daniela ; Lindner, Martin ; Lund, Allan M. ; Martinelli, Diego ; Murphy, Elaine ; Mühlhausen, Chris ; Olivieri, Giorgia ; Ottolenghi, Chris ; Rodrigues, Esmeralda ; Rubert, Laura ; Sarajlija, Adrijan ; Schiff, Manuel ; Sokal, Etienne ; SykutCegielska, Jolanta ; Walter, John H. ; Williams, Monique ; Zeman, JiriJournal of inherited metabolic disease, 2019-01, Vol.42 (1), p.93-106 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseasesPosset, Roland ; Garbade, Sven F ; Boy, Nikolas ; Burlina, Alberto B ; Dionisi-Vici, Carlo ; Dobbelaere, Dries ; Garcia-Cazorla, Angeles ; de Lonlay, Pascale ; Teles, Elisa Leão ; Vara, Roshni ; Ah Mew, Nicholas ; Batshaw, Mark L ; Baumgartner, Matthias R ; McCandless, Shawn ; Seminara, Jennifer ; Summar, Marshall ; Hoffmann, Georg F ; Kölker, Stefan ; Burgard, PeterJournal of inherited metabolic disease, 2018-07, p.1-13 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |