Showing 1 - 4 results of 4 for search 'Maria Barreda-Sánchez', query time: 0.06s Refine Results
  1. 1
    Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

    Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice by María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet, Encarna Guillén-Navarro

    Published 2023-07-01
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  2. 2
    Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19

    Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19 by Rosario López-Rodríguez, Marta Del Pozo-Valero, Marta Corton, Pablo Minguez, Javier Ruiz-Hornillos, María Elena Pérez-Tomás, María Barreda-Sánchez, Esther Mancebo, Cristina Villaverde, Gonzalo Núñez-Moreno, Raquel Romero, The STOP_Coronavirus Study Group, Estela Paz-Artal, Encarna Guillén-Navarro, Berta Almoguera, Carmen Ayuso

    Published 2022-06-01
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  3. 3
    High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

    High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor by María Barreda-Sánchez, Juan Buendía-Martínez, Guillermo Glover-López, Carmen Carazo-Díaz, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Lidya Rodriguez-Peña, Ana Teresa Serrano-Antón, Remedios Gil-Ferrer, Maria del Carmen Martínez-Romero, Pablo Carbonell-Meseguer, Encarna Guillén-Navarro

    Published 2019-02-01
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  4. 4
    EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

    EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population by María Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Barreda-Sánchez, Lidya Rodriguez-Peña, María Teresa Martínez-Menchon, José Frías-Iniesta, Paloma Sánchez-Pedreño, Pablo Carbonell-Meseguer, Guillermo Glover-López, Encarna Guillén-Navarro, GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia)

    Published 2019-12-01
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