ZANOBIO, MARIATERESA

ZANOBIO, MARIATERESA  

Dipartimento di Medicina Sperimentale  

Mostra records
Risultati 1 - 2 di 2 (tempo di esecuzione: 0.003 secondi).
Titolo Data di pubblicazione Autore(i) File
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications 1-gen-2022 Rosenhahn, Erik; O'Brien, Thomas J; Zaki, Maha S; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; Alkuraya, Fowzan S; Hashem, Mais O; Alhashem, Amal; Tabarki, Brahim; Alamri, Abdullah S; Al Safar, Ayat H; Bubshait, Dalal K; Alahmady, Nada F; Gleeson, Joseph G; Abdel-Hamid, Mohamed S; Lesko, Nicole; Ygberg, Sofia; Correia, Sandrina P; Wredenberg, Anna; Alavi, Shahryar; Seyedhassani, Seyed M; Ebrahimi Nasab, Mahya; Hussien, Haytham; Omar, Tarek E I; Harzallah, Ines; Touraine, Renaud; Tajsharghi, Homa; Morsy, Heba; Houlden, Henry; Shahrooei, Mohammad; Ghavideldarestani, Maryam; Abdel-Salam, Ghada M H; Torella, Annalaura; Zanobio, Mariateresa; Terrone, Gaetano; Brunetti-Pierri, Nicola; Omrani, Abdolmajid; Hentschel, Julia; Lemke, Johannes R; Sticht, Heinrich; Abou Jamra, Rami; Brown, Andre E X; Maroofian, Reza; Platzer, Konrad
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review 1-gen-2022 Santoro, Claudia; Mirone, Giuseppe; Zanobio, Mariateresa; Ranucci, Giusy; D'Amico, Alessandra; Cicala, Domenico; Iascone, Maria; Bernardo, Pia; Piccolo, Vincenzo; Ronchi, Andrea; Limongelli, Giuseppe; Carotenuto, Marco; Nigro, Vincenzo; Cinalli, Giuseppe; Piluso, Giulio