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Author/Creator Iascone, Maria

41. Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?. Issue 8 (22nd August 2022)

Authors:
Beltrami, Benedetta; Cerasani, Jacopo; Consales, Alessandra; Villa, Roberta; Resta, Nicoletta; Loconte, Daria Carmela; Boito, Simona; Caschera, Luca; Bassi, Laura; Colombo, Lorenzo; Iascone, Maria; Bedeschi, Maria Francesca
Journal:
Clinical case reports
Issue:
Volume 10:Issue 8(2022)
Page Start:
n/a
Record Type:
Journal Article
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42. Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings. (19th July 2022)

Authors:
Ronzoni, Luisa; Boito, Simona; Meossi, Camilla; Cesaretti, Claudia; Rinaldi, Berardo; Agolini, Emanuele; Rizzuti, Tommaso; Pezzoli, Laura; Silipigni, Rosamaria; Novelli, Antonio; Iascone, Maria; Persico, Nicola; Natacci, Federica
Journal:
Prenatal diagnosis
Issue:
Volume 42:Number 12(2022)
Page Start:
1493
Record Type:
Journal Article
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43. Rock around DYRK1A: Ethnic diversity, clinical challenges. Issue 5 (11th February 2023)

Authors:
Moroni, Alice; Pezzani, Lidia; Alfei, Enrico; Scatigno, Agnese; Cereda, Anna; Marzaroli, Michela; Guuva, Claudia; Gabbiadini, Sara; Pezzoli, Laura; Marchetti, Daniela; Spaccini, Luigina; Iascone, Maria
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 5(2023)
Page Start:
1459
Record Type:
Journal Article
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47. Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation. (7th January 2019)

Authors:
Indellicato, Rossella; Parini, Rossella; Domenighini, Ruben; Malagolini, Nadia; Iascone, Maria; Gasperini, Serena; Masera, Nicoletta; dall'Olio, Fabio; Trinchera, Marco
Journal:
Glycobiology
Issue:
Volume 29:Number 3(2019)
Page Start:
229
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗