检索结果 - Xènia Ferrer-Cortès

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

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

    出版 2021-02-01
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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 由 Ferran Celma Nos, Gonzalo Hernández, Xènia Ferrer-Cortès, Ines Hernandez-Rodriguez, Begoña Navarro-Almenzar, José Luis Fuster, Mar Bermúdez Cortés, Santiago Pérez-Montero, Cristian Tornador, Mayka Sanchez

    出版 2021-05-01
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  3. 3
    New Cases of Hypochromic Microcytic Anemia Due to Mutations in the <i>SLC11A2</i> Gene and Functional Characterization of the G75R Mutation

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

    出版 2022-04-01
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  4. 4
    Mutations in the <i>RACGAP1</i> gene cause autosomal recessive congenital dyserythropoietic anemia type III

    Mutations in the <i>RACGAP1</i> gene cause autosomal recessive congenital dyserythropoietic anemia type III 由 Gonzalo Hernández, Lídia Romero-Cortadellas, Xènia Ferrer-Cortès, Veronica Venturi, Mercedes Dessy-Rodriguez, Mireia Olivella, Ammar Husami, Concepción Pérez de Soto, Rosario M. Morales-Camacho, Ana Villegas, Fernando-Ataulfo González-Fernández, Marta Morado, Theodosia A. Kalfa, Oscar Quintana-Bustamante, Santiago Pérez-Montero, Cristian Tornador, Jose-Carlos Segovia, Mayka Sánchez

    出版 2022-10-01
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  5. 5
    New Cases and Mutations in <i>SEC23B</i> Gene Causing Congenital Dyserythropoietic Anemia Type II

    New Cases and Mutations in <i>SEC23B</i> Gene Causing Congenital Dyserythropoietic Anemia Type II 由 Melina Mara Musri, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María del Carmen Fernández Valle, David Beneitez Pastor, Ana Ortuño Cabrero, Maite Moreno Gamiz, Leonor Senent Peris, Amanda Isabel Perez-Valencia, Santiago Pérez-Montero, Cristian Tornador, Mayka Sánchez

    出版 2023-06-01
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