Ohcanbohtosat - Ferrer-Cortès, Xènia
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A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria Dahkki 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
Almmustuhtton 2021Teaksta -
2
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases Dahkki 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
Almmustuhtton 2021Teaksta -
3
New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation Dahkki 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
Almmustuhtton 2022Teaksta -
4
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis Dahkki 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
Almmustuhtton 2021Teaksta