Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasiaZannolli, Raffaella ; Sabrina Buoni ; Betti, Gianni ; Salvucci, Sara ; Plebani, Alessandro ; Soresina, Annarosa ; Pietrogrande, Maria C. ; Martino, Silvana ; Leuzzi, Vincenzo ; Finocchi, Andrea ; Micheli, Roberto ; Rossi, Livia Nicoletta ; Brusco, Alfredo ; Misiani, Filippo ; Fois, Alberto ; Hayek, Joseph ; Kelly, Colleen ; Chessa, LucianaMovement disorders, 2012-09, Vol.27 (10), p.1312-1316 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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2 |
Material Type: Artigo
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MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett SyndromeSignorini, Cinzia ; De Felice, Claudio ; Leoncini, Silvia ; Møller, Rikke S ; Zollo, Gloria ; Buoni, Sabrina ; Cortelazzo, Alessio ; Guerranti, Roberto ; Durand, Thierry ; Ciccoli, Lucia ; D'Esposito, Maurizio ; Ravn, Kirstine ; Hayek, Joussef Colak, DilekPloS one, 2016-03, Vol.11 (3), p.e0150101-e0150101 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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3 |
Material Type: Artigo
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Vagus nerve stimulation for drug-resistant epilepsy in children and young adultsBuoni, Sabrina ; Mariottini, Aldo ; Pieri, Sergio ; Zalaffi, Alessandro ; Farnetani, Maria Angela ; Strambi, Mirella ; Palma, Lucio ; Fois, AlbertoBrain & development (Tokyo. 1979), 2004-04, Vol.26 (3), p.158-163 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |
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4 |
Material Type: Artigo
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D-bifunctional protein deficiency associated with drug resistant infantile spasmsBuoni, Sabrina ; Zannolli, Raffaella ; Waterham, Hans ; Wanders, Ronald ; Fois, AlbertoBrain & development (Tokyo. 1979), 2007, Vol.29 (1), p.51-54 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |
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5 |
Material Type: Artigo
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FOXG1 Is Responsible for the Congenital Variant of Rett SyndromeAriani, Francesca ; Hayek, Giuseppe ; Rondinella, Dalila ; Artuso, Rosangela ; Mencarelli, Maria Antonietta ; Spanhol-Rosseto, Ariele ; Pollazzon, Marzia ; Buoni, Sabrina ; Spiga, Ottavia ; Ricciardi, Sara ; Meloni, Ilaria ; Longo, Ilaria ; Mari, Francesca ; Broccoli, Vania ; Zappella, Michele ; Renieri, AlessandraAmerican journal of human genetics, 2008-07, Vol.83 (1), p.89-93 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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6 |
Material Type: Artigo
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A child with vestibular neuritis. Is adenovirus implicated?Zannolli, Raffaella ; Zazzi, Maurizio ; Muraca, Maria Carmela ; Macucci, Francesca ; Buoni, Sabrina ; Nuti, DanieleBrain & development (Tokyo. 1979), 2006-07, Vol.28 (6), p.410-412 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |
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7 |
Material Type: Artigo
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Focal cortical dysplasia type 1b as a cause of severe epilepsy with multiple independent spike fociBuoni, Sabrina ; Zannolli, Raffaella ; Miracco, Clelia ; Macucci, Francesca ; Hayek, Joseph ; Burroni, Luca ; di Pietro, Giovanni ; Sardo, Luigi ; Mussa, Federico ; Giordano, Flavio ; Genitori, LorenzoBrain & development (Tokyo. 1979), 2008-01, Vol.30 (1), p.53-58 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |
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8 |
Material Type: Artigo
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Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and GZannolli, Raffaella ; Buoni, Sabrina ; Macucci, Francesca ; Scarinci, Renato ; Viviano, Massimo ; Orsi, Alessandra ; de Aloe, Giovanni ; Fimiani, Michele ; Volterrani, Luca ; de Santi, Maria M. ; Miracco, Clelia ; Zappella, Michele ; Hayek, JosephBrain & development (Tokyo. 1979), 2007-07, Vol.29 (6), p.373-376 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |
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9 |
Material Type: Artigo
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Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)Dhanraj, Santhosh ; Gunja, Sethu Madhava Rao ; Deveau, Adam P ; Nissbeck, Mikael ; Boonyawat, Boonchai ; Coombs, Andrew J ; Renieri, Alessandra ; Mucciolo, Mafalda ; Marozza, Annabella ; Buoni, Sabrina ; Turner, Lesley ; Li, Hongbing ; Jarrar, Ameer ; Sabanayagam, Mathura ; Kirby, Melanie ; Shago, Mary ; Pinto, Dalila ; Berman, Jason N ; Scherer, Stephen W ; Virtanen, Anders ; Dror, YigalJournal of medical genetics, 2015-11, Vol.52 (11), p.738-748 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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10 |
Material Type: Artigo
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New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: The future challengeZannolli, Raffaella ; Buoni, Sabrina ; de Santi, Margherita ; Miracco, Clelia ; Vonella, Giuseppina ; Tassini, Maria ; Vivi, Antonio ; Viviano, Massimo ; Rossi, Tiziana ; Orsi, Alessandra ; Scarinci, Renato ; D’Ambrosio, Alfonso ; Livi, Walter ; Volterrani, Luca ; Fois, Alberto ; Willems, Patrick ; Hayek, JosephBrain & development (Tokyo. 1979), 2008-08, Vol.30 (7), p.461-468 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |