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Author/Creator Pintomalli, Letizia

1. Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy. Issue 4 (April 2021)

Authors:
Bonfanti, Riccardo; Iafusco, Dario; Rabbone, Ivana; Diedenhofen, Giacomo; Bizzarri, Carla; Patera, Patrizia Ippolita; Reinstadler, Petra; Costantino, Francesco; Calcaterra, Valeria; Iughetti, Lorenzo; Savastio, Silvia; Favia, Anna; Cardella, Francesca; Lo Presti, Donatella; Girtler, Ylenia; Rabbi...
Journal:
European journal of endocrinology
Issue:
Volume 184:Issue 4(2021)
Page Start:
575
Record Type:
Journal Article
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2. Further delineation of Malan syndrome. Issue 9 (25th June 2018)

Authors:
Priolo, Manuela; Schanze, Denny; Tatton‐Brown, Katrin; Mulder, Paul A.; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S.; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K.; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nu...
Journal:
Human mutation
Issue:
Volume 39:Issue 9(2018)
Page Start:
1226
Record Type:
Journal Article
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3. SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction. Issue 1 (17th April 2022)

Authors:
Priolo, Manuela; Palermo, Valentina; Aiello, Francesca; Ciolfi, Andrea; Pannone, Luca; Muto, Valentina; Motta, Marialetizia; Mancini, Cecilia; Radio, Francesca Clementina; Niceta, Marcello; Leoni, Chiara; Pintomalli, Letizia; Carrozzo, Rosalba; Rajola, Giuseppe; Mammì, Corrado; Zampino, Giuseppe;...
Journal:
Clinical genetics
Issue:
Volume 102:Issue 1(2022)
Page Start:
12
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗