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Author/Creator Petracca, Antonio

1. Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder. Issue 11 (13th March 2020)

Authors:
Squeo, Gabriella Maria; Augello, Bartolomeo; Massa, Valentina; Milani, Donatella; Colombo, Elisa Adele; Mazza, Tommaso; Castellana, Stefano; Piccione, Maria; Maitz, Silvia; Petracca, Antonio; Prontera, Paolo; Accadia, Maria; Della Monica, Matteo; Di Giacomo, Marilena Carmela; Melis, Daniela; Seli...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 11(2020)
Page Start:
760
Record Type:
Journal Article
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2. Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants. Issue 6 (25th February 2021)

Authors:
Fusco, Carmela; Nardella, Grazia; Petracca, Antonio; Ronchi, Dario; Paciello, Nicola; Di Giacomo, Marilena; Gambardella, Stefano; Lanfranconi, Silvia; Zampatti, Stefania; D'Agruma, Leonardo; Micale, Lucia; Castori, Marco
Journal:
Clinical genetics
Issue:
Volume 99:Issue 6(2021)
Page Start:
829
Record Type:
Journal Article
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3. Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants. (26th February 2019)

Authors:
Fusco, Carmela; Nardella, Grazia; Fischetto, Rita; Copetti, Massimiliano; Petracca, Antonio; Annunziata, Francesca; Augello, Bartolomeo; D'Asdia, Maria Cecilia; Petrucci, Simona; Mattina, Teresa; Rella, Annalisa; Cassina, Matteo; Bengala, Mario; Biagini, Tommaso; Causio, Francesco Andrea; Caldari...
Journal:
Human molecular genetics
Issue:
Volume 28:Number 13(2019)
Page Start:
2133
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial. Issue 1 (January 2023)

Authors:
Lanfranconi, Silvia; Scola, Elisa; Meessen, Jennifer M T A; Pallini, Roberto; Bertani, Giulio A; Al-Shahi Salman, Rustam; Dejana, Elisabetta; Latini, Roberto; Abete Fornara, Giorgia; Agnelli, Nicolò M.; Albanese, Alessio; Awad, Issam; Bagnati, Renzo; Balconi, Giovanna; Ballabio, Elena; Beghi, Ett...
Journal:
Lancet neurology
Issue:
Volume 22:Issue 1(2023)
Page Start:
35
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗