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Author/Creator Digilio, M.C.

2. Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome. Issue 3 (24th January 2018)

Authors:
Niceta, M.; Margiotti, K.; Digilio, M.C.; Guida, V.; Bruselles, A.; Pizzi, S.; Ferraris, A.; Memo, L.; Laforgia, N.; Dentici, M.L.; Consoli, F.; Torrente, I.; Ruiz‐Perez, V.L.; Dallapiccola, B.; Marino, B.; De Luca, A.; Tartaglia, M.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 3(2018)
Page Start:
632
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Thricho‐rhino‐phalangeal syndrome and severe osteoporosis: A rare association or a feature? An effective therapeutic approach with biphosphonates. Issue 3 (19th December 2013)

Authors:
Macchiaiolo, M.; Mennini, M.; Digilio, M.C.; Buonuomo, P.S.; Lepri, F.R.; Gnazzo, M.; Grandin, A.; Angioni, A.; Bartuli, A.
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 3(2014.)
Page Start:
760
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗