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Author/Creator Lepri, Francesca R.

2. Congenital heart defects in molecularly confirmed KBG syndrome patients. Issue 4 (31st December 2021)

Authors:
Digilio, Maria Cristina; Calcagni, Giulio; Gnazzo, Maria; Versacci, Paolo; Dentici, Maria Lisa; Capolino, Rossella; Sinibaldi, Lorenzo; Baban, Anwar; Putotto, Carolina; Alfieri, Paolo; Unolt, Marta; Lepri, Francesca R.; Alesi, Viola; Genovese, Silvia; Novelli, Antonio; Marino, Bruno; Dallapiccola...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 4(2022)
Page Start:
1149
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation. Issue 5 (27th March 2019)

Authors:
Ponzi, Emanuela; Alesi, Viola; Lepri, Francesca R.; Genovese, Silvia; Loddo, Sara; Mucciolo, Mafalda; Novelli, Antonio; Dionisi‐Vici, Carlo; Maiorana, Arianna
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 5(2019)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗