Search

Author/Creator Mucciolo, Mafalda

1. Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). Issue 11 (4th September 2015)

Authors:
Dhanraj, Santhosh; Gunja, Sethu Madhava Rao; Deveau, Adam P; Nissbeck, Mikael; Boonyawat, Boonchai; Coombs, Andrew J; Renieri, Alessandra; Mucciolo, Mafalda; Marozza, Annabella; Buoni, Sabrina; Turner, Lesley; Li, Hongbing; Jarrar, Ameer; Sabanayagam, Mathura; Kirby, Melanie; Shago, Mary; Pinto, ...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 11(2015)
Page Start:
738
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome. Issue 7 (3rd April 2014)

Authors:
Disciglio, Vittoria; Rizzo, Caterina Lo; Mencarelli, Maria Antonietta; Mucciolo, Mafalda; Marozza, Annabella; Di Marco, Chiara; Massarelli, Antonio; Canocchi, Valentina; Baldassarri, Margherita; Ndoni, Enea; Frullanti, Elisa; Amabile, Sonia; Anderlid, Britt Marie; Metcalfe, Kay; Le Caignec, Cédri...
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 7(2014.)
Page Start:
1666
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review. Issue 10 (1st August 2019)

Authors:
Baban, Anwar; Olivini, Nicole; Lepri, Francesca Romana; Calì, Federica; Mucciolo, Mafalda; Digilio, Maria C.; Calcagni, Giulio; di Mambro, Corrado; Dallapiccola, Bruno; Adorisio, Rachele; Novelli, Antonio; Drago, Fabrizio
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 10(2019)
Page Start:
2083
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. 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) ↗