Sfoglia per AUTORE
SANTAMARIA G
Collezione AOU Alessandria
Items : 3
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction. in Clinical genetics / Clin Genet. 2021 Mar;99(3):430-436. doi: 10.1111/cge.13895. Epub 2020 Dec 14.
2021
AOU Alessandria
AOU Alessandria
Alberti D; Pini Prato A; Spagnuolo MI; Diamanti A; Lezo A; Pongiglione M; Santamaria G; Lerone M; Di Duca M; Bordo D; Matera I; Mattioli G; Gandullia P; Ceccherini I;
The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling. in International journal of molecular sciences / Int J Mol Sci. 2021 Apr 7;22(8):3831. doi: 10.3390/ijms22083831.
2021
AOU Alessandria
AOU Alessandria
Bachetti T; Rosamilia F; Bartolucci M; Santamaria G; Mosconi M; Sartori S; De Filippo MR; Di Duca M; Obino V; Avanzini S; Mavilio D; Candiani S; Petretto A; Pini Prato A; Ceccherini I; Lantieri F;
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2019 Nov 25;14(1):270. doi: 10.1186/s13023-019-1205-3.
2019
AOU Alessandria
AOU Alessandria
Lantieri F; Gimelli S; Viaggi C; Stathaki E; Malacarne M; Santamaria G; Grossi A; Mosconi M; Sloan-Béna F; Prato AP; Coviello D; Ceccherini I;