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Material Type: Artigo
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2015 HRS/EHRA/APHRS/SOLAECE expert consensus statement on optimal implantable cardioverter-defibrillator programming and testingWilkoff, Bruce L., MD, FHRS, CCDS ; Fauchier, Laurent, MD, PhD ; Stiles, Martin K., MBCHB, PhD ; Morillo, Carlos A., MD, FRCPC, FHRS ; Al-Khatib, Sana M., MD, MHSc, FHRS, CCDS ; Almendral, Jesœs, MD, PhD, FESC ; Aguinaga, Luis, MD, PhD, FACC, FESC ; Berger, Ronald D., MD, PhD, FHRS ; Cuesta, Alejandro, MD, PhD, FESC ; Daubert, James P., MD, FHRS ; Dubner, Sergio, MD, FACC ; Ellenbogen, Kenneth A., MD, FHRS ; Estes, N.A. Mark, MD ; Fenelon, Guilherme, MD, PhD ; Garcia, Fermin C., MD ; Gasparini, Maurizio, MD ; Haines, David E., MD, FHRS ; Healey, Jeff S., MD, MSc, FRCPC, FHRS ; Hurtwitz, Jodie L., MD ; Keegan, Roberto, MD ; Kolb, Christof, MD ; Kuck, Karl-Heinz, MD, FHRS ; Marinskis, Germanas, MD, FESC ; Martinelli, Martino, MD, PhD ; McGuire, Mark, MBBS, PhD ; Molina, Luis G., MD, DSc ; Okumura, Ken, MD, PhD ; Proclemer, Alessandro, MD ; Russo, Andrea M., MD, FHRS ; Singh, Jagmeet P., MD, DPhil, FHRS ; Swerdlow, Charles D., MD, FHRS ; Teo, Wee Siong, MBBS, FHRS ; Uribe, William, MD, FHRS ; Viskin, Sami, MD ; Wang, Chun-Chieh, MD ; Zhang, Shu, MDJournal of arrhythmia, 2016-02, Vol.32 (1), p.1-28 [Periódico revisado por pares]Japan: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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2022 EULAR recommendations for screening and prophylaxis of chronic and opportunistic infections in adults with autoimmune inflammatory rheumatic diseasesFragoulis, George E ; Nikiphorou, Elena ; Dey, Mrinalini ; Zhao, Sizheng Steven ; Courvoisier, Delphine Sophie ; Arnaud, Laurent ; Atzeni, Fabiola ; Behrens, Georg MN ; Bijlsma, Johannes WJ ; Böhm, Peter ; Constantinou, Costas A ; Garcia-Diaz, Silvia ; Kapetanovic, Meliha Crnkic ; Lauper, Kim ; Luís, Mariana ; Morel, Jacques ; Nagy, György ; Polverino, Eva ; van Rompay, Jef ; Sebastiani, Marco ; Strangfeld, Anja ; de Thurah, Annette ; Galloway, James ; Hyrich, Kimme LAnnals of the rheumatic diseases, 2023-06, Vol.82 (6), p.742-753 [Periódico revisado por pares]England: BMJ Publishing Group Ltd and European League Against RheumatismTexto completo disponível |
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Material Type: Artigo
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2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?Jaillard, S ; Dubourg, C ; Gérard-Blanluet, M ; Delahaye, A ; Pasquier, L ; Dupont, C ; Henry, C ; Tabet, A-C ; Lucas, J ; Aboura, A ; David, V ; Benzacken, B ; Odent, S ; Pipiras, EJournal of medical genetics, 2009-12, Vol.46 (12), p.847-855 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disordersZufferey, Flore ; Sherr, Elliott H ; Beckmann, Noam D ; Hanson, Ellen ; Maillard, Anne M ; Hippolyte, Loyse ; Macé, Aurélien ; Ferrari, Carina ; Kutalik, Zoltán ; Andrieux, Joris ; Aylward, Elizabeth ; Barker, Mandy ; Bernier, Raphael ; Bouquillon, Sonia ; Conus, Philippe ; Delobel, Bruno ; Faucett, W Andrew ; Goin-Kochel, Robin P ; Grant, Ellen ; Harewood, Louise ; Hunter, Jill V ; Lebon, Sébastien ; Ledbetter, David H ; Martin, Christa Lese ; Männik, Katrin ; Martinet, Danielle ; Mukherjee, Pratik ; Ramocki, Melissa B ; Spence, Sarah J ; Steinman, Kyle J ; Tjernagel, Jennifer ; Spiro, John E ; Reymond, Alexandre ; Beckmann, Jacques S ; Chung, Wendy K ; Jacquemont, SébastienJournal of medical genetics, 2012-10, Vol.49 (10), p.660-668 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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A2A adenosine receptor deletion is protective in a mouse model of TauopathyLaurent, C ; Burnouf, S ; Ferry, B ; Batalha, V L ; Coelho, J E ; Baqi, Y ; Malik, E ; Mariciniak, E ; Parrot, S ; Van der Jeugd, A ; Faivre, E ; Flaten, V ; Ledent, C ; D'Hooge, R ; Sergeant, N ; Hamdane, M ; Humez, S ; Müller, C E ; Lopes, L V ; Buée, L ; Blum, DMolecular psychiatry, 2016-01, Vol.21 (1), p.97-107 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Capítulo de Livro
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Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle VariantsBouchereau, Juliette ; Barrot, Sandrine Vuillaumier ; Dupré, Thierry ; Moore, Stuart E. H. ; Cardas, Ruxandra ; Capri, Yline ; Gaignard, Pauline ; Slama, Abdelhamid ; Delanoë, Catherine ; Ogier de Baulny, Hélène ; Seta, Nathalie ; Schiff, Manuel ; Servais, Laurent Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, MatthiasJIMD Reports, Volume 29, 2016, Vol.29, p.109-113 [Periódico revisado por pares]Berlin, Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Absence of tumor suppressor tumor protein 53-induced nuclear protein 1 (TP53INP1) sensitizes mouse thymocytes and embryonic fibroblasts to redox-driven apoptosisN'guessan, Prudence ; Pouyet, Laurent ; Gosset, Gaëlle ; Hamlaoui, Sonia ; Seillier, Marion ; Cano, Carla E ; Seux, Mylène ; Stocker, Pierre ; Culcasi, Marcel ; Iovanna, Juan L ; Dusetti, Nelson J ; Pietri, Sylvia ; Carrier, AliceAntioxidants & redox signaling, 2011-09, Vol.15 (6), p.1639-1653 [Periódico revisado por pares]United States: Mary Ann Liebert, IncTexto completo disponível |
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Material Type: Artigo
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Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial diseaseGrant, Audrey V ; Boisson-Dupuis, Stéphanie ; Herquelot, Eléonore ; de Beaucoudrey, Ludovic ; Filipe-Santos, Orchidée ; Nolan, Daniel K ; Feinberg, Jacqueline ; Boland, Anne ; Al-Muhsen, Saleh ; Sanal, Ozden ; Camcioglu, Yildiz ; Palanduz, Ayse ; Kilic, Sara Sebnem ; Bustamante, Jacinta ; Casanova, Jean-Laurent ; Abel, LaurentJournal of medical genetics, 2011-08, Vol.48 (8), p.567-571 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damageREBILLARD, A ; RIOUX-LECLERCQ, N ; SCHENCK, M ; LAGADIC-GOSSMANN, D ; GULBINS, E ; DIMANCHE-BOITREL, M. T ; MULLER, C ; BELLAUD, P ; JOUAN, F ; MEURETTE, O ; JOUAN, E ; VERNHET, L ; LE QUEMENT, C ; CARPINTEIRO, AOncogene, 2008-10, Vol.27 (51), p.6590-6595 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Actinomycosis: etiology, clinical features, diagnosis, treatment, and managementValour, Florent ; Sénéchal, Agathe ; Dupieux, Céline ; Karsenty, Judith ; Lustig, Sébastien ; Breton, Pierre ; Gleizal, Arnaud ; Boussel, Loïc ; Laurent, Frédéric ; Braun, Evelyne ; Chidiac, Christian ; Ader, Florence ; Ferry, TristanInfection and drug resistance, 2014-01, Vol.7 (default), p.183-197 [Periódico revisado por pares]New Zealand: Dove Medical Press LimitedTexto completo disponível |