检索结果 - Mario Lucariello

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    Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

    Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype 由 Mario Lucariello, Enrique Vidal, Silvia M. Vidal, Mauricio A. Sáez, Laura M. Roa, Dori Huertas, Mercè Pineda, Esther Dalfó, Joaquı́n Dopazo, Paola Jurado, Judith Armstrong, Manel Esteller

    出版 2016
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    Artigo
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    Mutations in JMJD1C are involved in Rett syndrome and intellectual disability

    Mutations in JMJD1C are involved in Rett syndrome and intellectual disability 由 Mauricio Saéz, Juana Fernández‐Rodríguez, Cátia Moutinho, José V. Sánchez‐Mut, Antonio Gómez, Enrique Vidal, Paolo Petazzi, Karolina Szczęsna, Paula López-Serra, Mario Lucariello, Patricia Lorden, Raúl Delgado‐Morales, Olga J. de la Caridad, Dori Huertas, Josep Lluis Gelpí, Modesto Orozco, Adriana López‐Doriga, Montserrat Milá, Luis A. Pérez‐Jurado, Mercédes Pineda, Judith Armstrong, Conxi Lázaro, Manel Esteller

    出版 2015
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    Artigo
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