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Author/Creator Rusconi, Daniela

2. A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype12. Issue 3 (22nd January 2013)

Authors:
Castronovo, Chiara; Rusconi, Daniela; Crippa, Milena; Giardino, Daniela; Gervasini, Cristina; Milani, Donatella; Cereda, Anna; Larizza, Lidia; Selicorni, Angelo; Finelli, Palma
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 3(2013:Mar.)
Page Start:
611
Record Type:
Journal Article
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3. Complex de novo chromosomal rearrangement at 15q11–q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature. (22nd October 2014)

Authors:
Castronovo, Chiara; Crippa, Milena; Bestetti, Ilaria; Rusconi, Daniela; Russo, Silvia; Larizza, Lidia; Sangermani, Roberto; Bonati, Maria Teresa; Finelli, Palma
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 1(2015:Jan.)
Page Start:
221
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. Issue 2 (4th November 2015)

Authors:
Negri, Gloria; Magini, Pamela; Milani, Donatella; Colapietro, Patrizia; Rusconi, Daniela; Scarano, Emanuela; Bonati, Maria Teresa; Priolo, Manuela; Crippa, Milena; Mazzanti, Laura; Wischmeijer, Anita; Tamburrino, Federica; Pippucci, Tommaso; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina
Journal:
Human mutation
Issue:
Volume 37:Issue 2(2016)
Page Start:
175
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗