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Material Type: Artigo
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Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2Pippucci, Tommaso ; Savoia, Anna ; Perrotta, Silverio ; Pujol-Moix, Núria ; Noris, Patrizia ; Castegnaro, Giovanni ; Pecci, Alessandro ; Gnan, Chiara ; Punzo, Francesca ; Marconi, Caterina ; Gherardi, Samuele ; Loffredo, Giuseppe ; De Rocco, Daniela ; Scianguetta, Saverio ; Barozzi, Serena ; Magini, Pamela ; Bozzi, Valeria ; Dezzani, Luca ; Di Stazio, Mariateresa ; Ferraro, Marcella ; Perini, Giovanni ; Seri, Marco ; Balduini, Carlo L.American journal of human genetics, 2011-01, Vol.88 (1), p.115-120 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)Donaudy, Francesca ; Snoeckx, Rik ; Pfister, Markus ; Zenner, Hans-Peter ; Blin, Nikolaus ; Di Stazio, Mariateresa ; Ferrara, Antonella ; Lanzara, Carmen ; Ficarella, Romina ; Declau, Frank ; Pusch, Carsten M. ; Nürnberg, Peter ; Melchionda, Salvatore ; Zelante, Leopoldo ; Ballana, Ester ; Estivill, Xavier ; Van Camp, Guy ; Gasparini, Paolo ; Savoia, AnnaAmerican journal of human genetics, 2004-04, Vol.74 (4), p.770-776 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |