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Material Type: Artigo
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Risk of tumorigenesis in overgrowth syndromes: A comprehensive reviewLapunzina, PabloAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2005-08, Vol.137C (1), p.53-71Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Multiple sclerosis – a reviewDobson, R. ; Giovannoni, G.European journal of neurology, 2019-01, Vol.26 (1), p.27-40 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Nomenclature and definition in asymmetric regional body overgrowthKalish, Jennifer M. ; Biesecker, Leslie G. ; Brioude, Frederic ; Deardorff, Matthew A. ; Di Cesare‐Merlone, Alessandra ; Druley, Todd ; Ferrero, Giovanni B. ; Lapunzina, Pablo ; Larizza, Lidia ; Maas, Saskia ; Macchiaiolo, Marina ; Maher, Eamonn R. ; Maitz, Silvia ; Martinez‐Agosto, Julian A. ; Mussa, Alessandro ; Robinson, Peter ; Russo, Silvia ; Selicorni, Angelo ; Hennekam, Raoul C.American journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1735-1738 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Survey of diagnostic and treatment practices for multiple sclerosis in EuropeFernández, O. ; Delvecchio, M. ; Edan, G. ; Fredrikson, S. ; Gionvannoni, G. ; Hartung, H.‐P. ; Havrdova, E. ; Kappos, L. ; Pozzilli, C. ; Soerensen, P. S. ; Tackenberg, B. ; Vermersch, P. ; Comi, G.European journal of neurology, 2017-03, Vol.24 (3), p.516-522 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirthSteward, C. G. ; Newbury-Ecob, R. A. ; Hastings, R. ; Smithson, S. F. ; Tsai-Goodman, B. ; Quarrell, O. W. ; Kulik, W. ; Wanders, R. ; Pennock, M. ; Williams, M. ; Cresswell, J. L. ; Gonzalez, I. L. ; Brennan, P.Prenatal diagnosis, 2010-10, Vol.30 (10), p.970-976 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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Menopause does not modify disability trajectories in a longitudinal cohort of women with clinically isolated syndrome and multiple sclerosis followed from disease onsetOtero‐Romero, Susana ; Midaglia, Luciana ; Carbonell‐Mirabent, Pere ; Zuluaga, María ; Galán, Ingrid ; Río, Jordi ; Arrambide, Georgina ; Rodríguez‐Barranco, Marta ; Vidal‐Jordana, Angela ; Castillo, Joaquin ; Rodríguez‐Acevedo, Breogán ; Zabalza, Ana ; Nos, Carlos ; Comabella‐Lopez, Manuel ; Mulero, Patricia ; Auger, Cristina ; Sastre‐Garriga, Jaume ; Pérez‐Hoyos, Santiago ; Rovira, Alex ; Montalban, Xavier ; Tintoré, MarEuropean journal of neurology, 2022-04, Vol.29 (4), p.1075-1081 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Classification of radiologically isolated syndrome and clinically isolated syndrome with machine‐learning techniquesMato‐Abad, V. ; Labiano‐Fontcuberta, A. ; Rodríguez‐Yáñez, S. ; García‐Vázquez, R. ; Munteanu, C. R. ; Andrade‐Garda, J. ; Domingo‐Santos, A. ; Galán Sánchez‐Seco, V. ; Aladro, Y. ; Martínez‐Ginés, M. L. ; Ayuso, L. ; Benito‐León, J.European journal of neurology, 2019-07, Vol.26 (7), p.1000-1005 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Inner retinal layer thinning in radiologically isolated syndrome predicts conversion to multiple sclerosisAly, L. ; Havla, J. ; Lepennetier, G. ; Andlauer, T. F. M. ; Sie, C. ; Strauß, E.‐M. ; Hoshi, M.‐M. ; Kümpfel, T. ; Hiltensperger, M. ; Mitsdoerffer, M. ; Mühlau, M. ; Zimmer, C. ; Hemmer, B. ; Korn, T. ; Knier, B.European journal of neurology, 2020-11, Vol.27 (11), p.2217-2224 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Comprehensive analysis of isolated der(1;7)(q10;p10) in a large international homogenous cohort of patients with myelodysplastic syndromesGanster, Christina ; Müller‐Thomas, Catharina ; Haferlach, Claudia ; Strupp, Corinna ; Ogata, Kiyoyuki ; Germing, Ulrich ; Hildebrandt, Barbara ; Mallo, Mar ; Lübbert, Michael ; Müller, Christel ; Solé, Francesc ; Götze, Katharina S. ; Vandenberghe, Peter ; Göhring, Gudrun ; Steinmetz, Tilman ; Kröger, Nicolaus ; Platzbecker, Uwe ; Söling, Ulrike ; Raynaud, Sophie ; Shirneshan, Katayoon ; Schanz, Julie ; Haase, DetlefGenes chromosomes & cancer, 2019-10, Vol.58 (10), p.689-697 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Diagnostic value of the 2017 McDonald criteria in patients with a first demyelinating event suggestive of relapsing–remitting multiple sclerosisLee, D.‐H. ; Peschke, M. ; Utz, K. S. ; Linker, R. A.European journal of neurology, 2019-03, Vol.26 (3), p.540-545 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |