RE-BVS – Piemonte Repository

Sfoglia per RIVISTA
ORPHANET JOURNAL OF RARE DISEASES
Collezione AOU Alessandria

Items : 4

A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: beware of an underestimated condition. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2023 Oct 27;18(1):339. doi: 10.1186/s13023-023-02958-1.

2023
AOU Alessandria

Erculiani M; Poluzzi F; Mottadelli G; Felici E; Ml N; Caraccia M; Grandi A; Casella S; Giacometti L; Montobbio G; Ceccherini I; Di Marco E; Bonaretti C; Biassoni R; Squillario M; Pietrantoni A; Villanacci V; Pini Prato A;

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2022 Feb 2;17(1):33. doi: 10.1186/s13023-022-02179-y.

2022
AOU Alessandria
AOU Città della Salute di Torino

Porta F; Manganaro M; Deaglio S; Vaisitti T; Amoroso A; Nozza P; Barreca A; Bracciamà V; Brezzi B; Kalantari S; Spada M;

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence). in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2020 Aug 5;15(1):201. doi: 10.1186/s13023-020-01481-x.

2020
AOU Alessandria

Baldelli I; Baccarani A; Barone C; Bedeschi F; Bianca S; Calabrese O; Castori M; Catena N; Corain M; Costanzo S; Barbato GP; De Stefano S; Divizia MT; Feletti F; Formica M; Lando M; Lerone M; Lorenzetti F; Martinoli C; Mellini L; Nava MB; Porcellini G; Puliti A; Romanini MV; Rondoni F; Santi P; Sartini S; Senes F; Spada L; et alii...

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

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;