J. Aranda

Functional and Clinical Impact of Novel Tmprss6 Variants in Iron‐Refractory Iron‐Deficiency Anemia Patients and Genotype–Phenotype Studies

Mayka Sanchez, Achille Iolascon, Clara Camaschella, 2014, Human mutation.

Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3

Érica Morán, X. de la Cruz, S. Lois, 2015, Molecular genetics & genomic medicine.

FMOD expression in whole blood aids in distinguishing between chronic lymphocytic leukemia and other leukemic lymphoproliferative disorders. A pilot study

S. Beà, J. Juncà, S. Marcé, 2020, Cytometry. Part B, Clinical cytometry.

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

M. Muckenthaler, Érica Morán, Sara Luscieti, 2013, Orphanet Journal of Rare Diseases.

Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies.

M. Palacín, L. Feliubadaló, V. Nunes, 2007, American journal of physiology. Renal physiology.

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

M. Muckenthaler, Érica Morán, Sara Luscieti, 2013, Orphanet journal of rare diseases.