Rezultati - Ferrer-Cortès, Xènia

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  1. 1
    A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria

    A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria od Ducamp, Sarah, Luscieti, Sara, Ferrer-Cortès, Xènia, Nicolas, Gaël, Manceau, Hana, Peoc’h, Katell, Yien, Yvette Y., Kannengiesser, Caroline, Gouya, Laurent, Puy, Herve, Sanchez, Mayka

    Izdano 2021
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  2. 2
    Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases

    Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases od Celma Nos, Ferran, Hernández, Gonzalo, Ferrer-Cortès, Xènia, Hernandez-Rodriguez, Ines, Navarro-Almenzar, Begoña, Fuster, José Luis, Bermúdez Cortés, Mar, Pérez-Montero, Santiago, Tornador, Cristian, Sanchez, Mayka

    Izdano 2021
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  3. 3
    New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation

    New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation od Romero-Cortadellas, Lídia, Hernández, Gonzalo, Ferrer-Cortès, Xènia, Zalba-Jadraque, Laura, Fuster, José Luis, Bermúdez-Cortés, Mar, Galera-Miñarro, Ana María, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka

    Izdano 2022
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  4. 4
    New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis

    New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis od Hernández, Gonzalo, Ferrer-Cortès, Xenia, Venturi, Veronica, Musri, Melina, Pilquil, Martin Floor, Torres, Pau Marc Muñoz, Rodríguez, Ines Hernandez, Mínguez, Maria Àngels Ruiz, Kelleher, Nicholas J., Pelucchi, Sara, Piperno, Alberto, Alberca, Esther Plensa, Ricós, Georgina Gener, Giró, Eloi Cañamero, Pérez-Montero, Santiago, Tornador, Cristian, Villà-Freixa, Jordi, Sánchez, Mayka

    Izdano 2021
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