MUSSA, Alessandro

MUSSA, Alessandro  

SCIENZE DELLA SANITA' PUBBLICA E PEDIATRICHE  

Mostra records
Risultati 1 - 11 di 11 (tempo di esecuzione: 0.007 secondi).
Titolo Data di pubblicazione Autore(i) File
A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA 2006 PORTA F; ALLUTO A; MUSSA A; SPADA M; A. PONZONE
a microduplication of the centromeric domain of the 11p15.5 impirnted gene cluster is associated with loss of DNA methylation and familial BWS. 2010 Chiesa N; De Crescenzo N; Mussa A; Baldassarre G; Perone L; Carella M; Cirillo Silengo M; Riccio A; Ferrero GB
Adult phenotype of Beckwith-Wiedemann syndrome 2019 Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB
Analisi molecolare e caratteristiche cliniche di 42 pazienti con sindrome di Beckwith e quadri correlati 2007 ferrero GB; Mussa A; Biamino E; Molinatto C; Pepe E; Bianchi M; Riccio A; Silengo M
Clinical and molecular characterization of a cohort of 49 children affected by Beckwith-Wiedemann Syndrome and related congenital defects 2008 Mussa A; Baldassarre G; Molinatto C; Peruzzi L; Pepe E; Riccio A; Cirillo Silengo M
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder 2020 D Carli, E Giorgio, L Pavinato, E Riberi, P Dimartino, A Bruselles, S Cardaropoli, A Mussa, A Pelle, G Mandrile, V Antona, L Sorasio, E Biamino, EF Belligni, V Rizzo, F Sirchia, I Bagnasco, G Zacchetti, VG Naretto, G Gai, A Zonta, E Grosso, C Davico, R Keller, T Pippucci, M Tartaglia, S De Rubeis, A Brusco, GB Ferrero
Genotypic and phenotypic spectrum of 44 patients with Noonan syndrome 2009 Baldassarre G; Rossi C; Chiesa N; Mussa A; Marinosci A; Tartaglia M; Silengo M; Ferrero GB
Incidence of Beckwith-Wiedemann syndrome 2012 Molinatto C; Mussa A; De Crescenzo N; Chiesa N; Baldassarre G; Selicorni A; Russo S; Riccio A; Silengo M; Ferrero GB.
Phenotype evolution and health issues of adult patients affected by Beckwith-Wiedemann Syndrome 2018 gazzin andrea, carli diana, molinatto cristina, cardaropoli simona, mussa alessandro, ferrero giovanni battista
Prenatal phenotype in Beckwith-Wiedemann spectrum 2020 Carli, D; Bertola, C; Cardaropoli, S; Ciuffreda, VP; Pieretto, M; Ferrero, GB; Mussa, A
SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician 2020 Moroni A, Carli D, Giorgio E, Sirchia F, Pavinato L, Cardaropoli S, Di Martino P, Mussa A, Pipucci T, De Rubeis S, Brusco A