Elena Di Pierro

Congenital erythropoietic porphyria linked to <scp>GATA</scp> 1‐ <scp>R</scp> 216 <scp>W</scp> mutation: challenges for diagnosis

Elena Di Pierro, Roberta Russo, Zeynep Karakaş et al. · European Journal Of Haematology · 2014 · 46 citations

X‐chromosomal inactivation directly influences the phenotypic manifestation of X‐linked protoporphyria

Valentina Brancaleoni, Manisha Balwani, Francesca Granata et al. · Clinical Genetics · 2015 · 37 citations

Biology, X‐chromosomal Inactivation, Androgen Receptor +12

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

Warren van Loggerenberg, Shahin Sowlati‐Hashjin, Jochen Weile et al. · The American Journal of Human Genetics · 2023 · 29 citations · Full text

Hyperhomocysteinemia in patients with acute porphyrias: A potentially dangerous metabolic crossroad?

Paolo Ventura, Elena Corradini, Elena Di Pierro et al. · European Journal of Internal Medicine · 2020 · 28 citations · Full text

Physiology, Acute Porphyrias, Metabolism +3

Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan

Rawand Shamoon, Nasir Al‐Allawi, Maria Domenica Cappellini et al. · Hemoglobin · 2015 · 26 citations