Showing 1 - 3 results of 3 for search 'Adrián González-Quintana', query time: 0.03s Refine Results
  1. 1
    Novel <i>NDUFA13</i> Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report

    Novel <i>NDUFA13</i> Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report by Adrián González-Quintana, Inés García-Consuegra, Amaya Belanger-Quintana, Pablo Serrano-Lorenzo, Alejandro Lucia, Alberto Blázquez, Jorge Docampo, Cristina Ugalde, María Morán, Joaquín Arenas, Miguel A. Martín

    Published 2020-07-01
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  2. 2
    Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the <i>PERP</i> Gene Associated with Autosomal Recessive Erythrokeratoderma

    Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the <i>PERP</i> Gene Associated with Autosomal Recessive Erythrokeratoderma by Adrián González-Quintana, Rocío Garrido-Moraga, Sara I. Palencia-Pérez, Ángela Hernández-Martín, Jon Sánchez-Munárriz, José M. Lezana-Rosales, Juan F. Quesada-Espinosa, Miguel A. Martín, Ana Arteche-López

    Published 2023-07-01
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  3. 3
    A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I <i>NDUFB11</i> Gene

    A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I <i>NDUFB11</i> Gene by Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo, Rocío Garrido-Moraga, Adrián González-Quintana, Alberto Blázquez, Juan C. Rubio, Inés García-Consuegra, Joaquín Arenas, Cristina Ugalde, María Morán, Encarnación Guillén-Navarro, Miguel A. Martín

    Published 2023-01-01
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