Author: "Rodríguez-García, María-Elena" / Journal: neurogenetics - Searchworks@Jio Institute Digital Library Search Results

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Your search keyword '"Rodríguez-García, María-Elena"' showing total 3 results

Start Over Author "Rodríguez-García, María-Elena" Journal neurogenetics

3 results on '"Rodríguez-García, María-Elena"'

1. New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

Author: Martín-Hernández, Elena, Rodríguez-García, María Elena, Camacho, Ana, Matilla-Dueñas, Antoni, García-Silva, María Teresa, Quijada-Fraile, Pilar, Corral-Juan, Marc, Tejada-Palacios, Pilar, de Las Heras, Rogelio Simón, Arenas, Joaquín, Martín, Miguel A., and Martínez-Azorín, Francisco
Published: 2016
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2. First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking

Author: Rodríguez-García, María Elena, Martín-Hernández, Elena, de Aragón, Ana Martínez, García-Silva, María Teresa, Quijada-Fraile, Pilar, Arenas, Joaquín, Martín, Miguel A., and Martínez-Azorín, Francisco
Published: 2016
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3. First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking

Author: Rodríguez-García, María Elena, primary, Martín-Hernández, Elena, additional, de Aragón, Ana Martínez, additional, García-Silva, María Teresa, additional, Quijada-Fraile, Pilar, additional, Arenas, Joaquín, additional, Martín, Miguel A., additional, and Martínez-Azorín, Francisco, additional
Published: 2015
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