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1
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

Negri, Gloria ; Magini, Pamela ; Milani, Donatella ; Crippa, Milena ; Biamino, Elisa ; Piccione, Maria ; Sotgiu, Stefano ; Perrìa, Chiara ; Vitiello, Giuseppina ; Frontali, Marina ; Boni, Antonella ; Di Fede, Elisabetta ; Gandini, Maria Chiara ; Colombo, Elisa Adele ; Bamshad, Michael J ; Nickerson, Deborah A ; Smith, Joshua D ; Loddo, Italia ; Finelli, Palma ; Seri, Marco ; Pippucci, Tommaso ; Larizza, Lidia ; Gervasini, Cristina

Human genetics, 2019-02-26, Vol.138 (3), p.257-269 [Rivista Peer Reviewed]

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2
Chromatinopathies: A focus on Cornelia de Lange syndrome
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Chromatinopathies: A focus on Cornelia de Lange syndrome

Avagliano, Laura ; Parenti, Ilaria ; Grazioli, Paolo ; Di Fede, Elisabetta ; Parodi, Chiara ; Mariani, Milena ; Kaiser, Frank J ; Selicorni, Angelo ; Gervasini, Cristina ; Massa, Valentina

Clinical genetics, 2019-11-24, Vol.97 (1), p.3-11 [Rivista Peer Reviewed]

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3
Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C
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Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8 T>C

Rovina, Davide ; Castiglioni, Elisa ; Niro, Francesco ; Farini, Andrea ; Belicchi, Marzia ; Di Fede, Elisabetta ; Gervasini, Cristina ; Paganini, Stefania ; Di Segni, Marina ; Torrente, Yvan ; Santoro, Rosaria ; Pompilio, Giulio ; Gowran, Aoife

Stem cell research, 2020-05, Vol.45, p.101819-101819 [Rivista Peer Reviewed]

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4
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants
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Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants

Colombo, Elisa A ; Elcioglu, Nursel H ; Graziano, Claudio ; Farinelli, Pamela ; Di Fede, Elisabetta ; Neri, Iria ; Facchini, Elena ; Greco, Mariangela ; Gervasini, Cristina ; Larizza, Lidia

Journal of clinical immunology, 2018-05, Vol.38 (4), p.494-502 [Rivista Peer Reviewed]

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5
Front Cover
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Front Cover

Avagliano, Laura ; Parenti, Ilaria ; Grazioli, Paolo ; Di Fede, Elisabetta ; Parodi, Chiara ; Mariani, Milena ; Kaiser, Frank J ; Selicorni, Angelo ; Gervasini, Cristina ; Massa, Valentina

Clinical genetics, 2020-01, Vol.97 (1) [Rivista Peer Reviewed]

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6
Front Cover
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Front Cover

Avagliano, Laura ; Parenti, Ilaria ; Grazioli, Paolo ; Di Fede, Elisabetta ; Parodi, Chiara ; Mariani, Milena ; Kaiser, Frank J ; Selicorni, Angelo ; Gervasini, Cristina ; Massa, Valentina

Clinical genetics, 2020-01-01, Vol.97 (1), p.i [Rivista Peer Reviewed]

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7
Front Cover
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Front Cover

Avagliano, Laura ; Parenti, Ilaria ; Grazioli, Paolo ; Di Fede, Elisabetta ; Parodi, Chiara ; Mariani, Milena ; Kaiser, Frank J ; Selicorni, Angelo ; Gervasini, Cristina ; Massa, Valentina

Clinical genetics, 2019-12-17, Vol.97 (1) [Rivista Peer Reviewed]

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8
Osteonecrosis of the Jaw in Patients With Metastatic Renal Cell Cancer Treated With Bisphosphonates and Targeted Agents: Results of an Italian Multicenter Study and Review of the Literature
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Osteonecrosis of the Jaw in Patients With Metastatic Renal Cell Cancer Treated With Bisphosphonates and Targeted Agents: Results of an Italian Multicenter Study and Review of the Literature

Fusco, Vittorio ; Porta, Camillo ; Saia, Giorgia ; Paglino, Chiara ; Bettini, Giordana ; Scoletta, Matteo ; Bonacina, Riccardo ; Vescovi, Paolo ; Merigo, Elisabetta ; Lo Re, Giovanni ; Guglielmini, Pamela ; Di Fede, Olga ; Campisi, Giuseppina ; Bedogni, Alberto

Clinical genitourinary cancer, 2015-08, Vol.13 (4), p.287-294 [Rivista Peer Reviewed]

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9
Time to onset of bisphosphonate‐related osteonecrosis of the jaws: a multicentre retrospective cohort study
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Time to onset of bisphosphonate‐related osteonecrosis of the jaws: a multicentre retrospective cohort study

Fung, PPL ; Bedogni, G ; Bedogni, A ; Petrie, A ; Porter, S ; Campisi, G ; Bagan, J ; Fusco, V ; Saia, G ; Acham, S ; Musto, P ; Petrucci, MT ; Diz, P ; Colella, G ; Mignogna, MD ; Pentenero, M ; Arduino, P ; Lodi, G ; Maiorana, C ; Manfredi, M ; Hallberg, P ; Wadelius, M ; Takaoka, K ; Leung, YY ; Bonacina, R ; Schiødt, M ; Lakatos, P ; Taylor, T ; De Riu, G ; Favini, G ; Rogers, SN ; Pirmohamed, M ; Nicoletti, P ; Fedele, S ; López‐Cedrún, Jose L ; Madsen, Sanne ; Sadile, Gennaro ; Leuci, Stefania ; Mirelli, Cristina ; Conti, Giulio ; Maiavacca, Rita ; Urade, Masahiro ; Kishimoto, Hiromitsu ; Okui, Shin ; Zushi, Yusuke ; Yamamura, Michiyo ; Yoshikawa, Kyohei ; Mansueto, Giovanna ; Magnusson, Patrik KE ; Popat, Shina ; Kirnbauer, Barbara ; Obermayer‐Pietsch, Barbara ; Jakse, Norbert ; Mariani, Umberto ; Martini, Valeria ; Fasciolo, Antonella ; Martino, Iolanda ; Alessio, Manuela ; Sanromán, Jacinto F ; Grammatico, Sara ; Siniscalchi, Giovanni ; Itro, Angelo ; Balla, Bernadett ; Kosa, Janos P ; Vaszilko, Mihaly ; Lo, John ; Besi, Eleni ; D'Aiuto, Francesco ; Yong, Kwee ; Donos, Nikos ; Mercadante, Valeria ; Stein, Robert ; D'Sa, Shirley ; Varoni, Elena ; Soma, Damiano ; Meloni, Silvio ; Evely, Jane ; Hanson, Anita ; Giancola, Francesco ; Di Fede, Olga ; Panzarella, Vera ; Bettini, Giordana ; Merigo, Elisabetta ; Mergoni, Giovanni ; Vescovi, Paolo ; Gandolfo, Sergio ; Marino, Roberto ; Berrone, Mattia ; Gambino, Alessio ; Menegatti, Elisa ; Broccoletti, Roberto ; Hens, Elena ; Bagan, Leticia

Oral diseases, 2017-05, Vol.23 (4), p.477-483 [Rivista Peer Reviewed]

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10
Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene
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Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene

Rossi, Giacomina ; Gasparoli, Elisabetta ; Pasquali, Claudio ; Di Fede, Giuseppe ; Testa, Daniela ; Albanese, Alberto ; Bracco, Fulvio ; Tagliavini, Fabrizio

Annals of neurology, 2004-03, Vol.55 (3), p.448-448 [Rivista Peer Reviewed]

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