Sfoglia per Autore
HAMP GENE MUTATION C.208T>C (P.C70R) IDENTIFIED IN AN ITALIAN PATIENT WITH SEVERE HEREDITARY HEMOCHROMATOSIS.
2004 Majore, S; Binni, Francesco; Pennese, Antonio; DE SANTIS, Adriano; Crisi, A; Grammatico, Paola
Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis
2011 Castori, Marco; Stefano, Sarazani; Binni, Francesco; Francesca Romana, Pezzella; Giovanni, Cruciani; Grammatico, Paola
Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis
2011 Giancotti, Antonella; Castori, Marco; Spagnuolo, Antonella; Binni, Francesco; D'Ambrosio, Valentina; Pasquali, Gaia; Pizzuti, Antonio; Grammatico, Paola
In vitro reconstruction of epidermis from primary Darier's disease keratinocytes replicates the histopathological phenotype
2013 C. L., De Rouvroit; Celine, Charlier; Damien, Lederer; Valerie De, Glas; Evelyne De, Vuyst; Jean Louis, Dargent; Grammatico, Paola; Binni, Francesco; Catherine, Rousseau; Jean Luc, Hennecker; Arjen F., Nikkels; Yves, Poumay
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy
2014 Radio, FRANCESCA CLEMENTINA; Silvia, Majore; Binni, Francesco; Michele, Valiante; Bianca Maria, Ricerca; Carmelilia De, Bernardo; Grammatico, Paola
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| HAMP GENE MUTATION C.208T>C (P.C70R) IDENTIFIED IN AN ITALIAN PATIENT WITH SEVERE HEREDITARY HEMOCHROMATOSIS. | 2004 | Majore, S; Binni, Francesco; Pennese, Antonio; DE SANTIS, Adriano; Crisi, A; Grammatico, Paola | |
| Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis | 2011 | Castori, Marco; Stefano, Sarazani; Binni, Francesco; Francesca Romana, Pezzella; Giovanni, Cruciani; Grammatico, Paola | |
| Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis | 2011 | Giancotti, Antonella; Castori, Marco; Spagnuolo, Antonella; Binni, Francesco; D'Ambrosio, Valentina; Pasquali, Gaia; Pizzuti, Antonio; Grammatico, Paola | |
| In vitro reconstruction of epidermis from primary Darier's disease keratinocytes replicates the histopathological phenotype | 2013 | C. L., De Rouvroit; Celine, Charlier; Damien, Lederer; Valerie De, Glas; Evelyne De, Vuyst; Jean Louis, Dargent; Grammatico, Paola; Binni, Francesco; Catherine, Rousseau; Jean Luc, Hennecker; Arjen F., Nikkels; Yves, Poumay | |
| TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy | 2014 | Radio, FRANCESCA CLEMENTINA; Silvia, Majore; Binni, Francesco; Michele, Valiante; Bianca Maria, Ricerca; Carmelilia De, Bernardo; Grammatico, Paola |
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