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2020 3
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Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.
Mignogna ML, Ficarella R, Gelmini S, Marzulli L, Ponzi E, Gabellone A, Peschechera A, Alessio M, Margari L, Gentile M, D'Adamo P. Mignogna ML, et al. Among authors: gabellone a. Hum Mol Genet. 2022 May 4;31(9):1389-1406. doi: 10.1093/hmg/ddab320. Hum Mol Genet. 2022. PMID: 34761259 Free PMC article.
Vitamin D Deficiency in Autism Spectrum Disorder: A Cross-Sectional Study.
Petruzzelli MG, Marzulli L, Margari F, De Giacomo A, Gabellone A, Giannico OV, Margari L. Petruzzelli MG, et al. Among authors: gabellone a. Dis Markers. 2020 Sep 18;2020:9292560. doi: 10.1155/2020/9292560. eCollection 2020. Dis Markers. 2020. PMID: 33014190 Free PMC article.
14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.
Ponzi E, Gentile M, Agolini E, Matera E, Palumbi R, Buonadonna AL, Peschechera A, Gabellone A, Antonucci MF, Margari L. Ponzi E, et al. Among authors: gabellone a. Mol Genet Genomic Med. 2020 Jul;8(7):e1289. doi: 10.1002/mgg3.1289. Epub 2020 May 16. Mol Genet Genomic Med. 2020. PMID: 32415730 Free PMC article. Review.
21 results