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The last 5 uploaded publications
Mutations in JMJD1C are involved in Rett syndrome and intellectual disability
Mauricio A. Sáez, 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 Milà, Luis A. Pérez‐Jurado, Mercédes Pineda, Judith Armstrong, Conxi Lázaro, Manel Esteller (2015). Mutations in JMJD1C are involved in Rett syndrome and intellectual disability. , 18(4), DOI: https://doi.org/10.1038/gim.2015.100.
Article74 days agoWhole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype
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 (2016). Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. , 135(12), DOI: https://doi.org/10.1007/s00439-016-1721-3.
Article74 days ago