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Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.
Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F. Accogli A, et al. Among authors: selmi r. Neurol Genet. 2017 Aug 9;3(5):e179. doi: 10.1212/NXG.0000000000000179. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28815207 Free PMC article. No abstract available.
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.
Rovelli V, Cefalo G, Ercoli V, Zuvadelli J, Olivia T, Graziani D, Luisella A, Bassi D, Re Dionigi A, Selmi R, Paci S, Salvatici E, Banderali G. Rovelli V, et al. Among authors: selmi r. Endocrinol Diabetes Metab. 2023 Mar;6(2):e396. doi: 10.1002/edm2.396. Epub 2022 Dec 19. Endocrinol Diabetes Metab. 2023. PMID: 36537053 Free PMC article.