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Inverted duplications: how many of them are mosaic?
Pramparo T, Giglio S, Gregato G, de Gregori M, Patricelli MG, Ciccone R, Scappaticci S, Mannino G, Lombardi C, Pirola B, Giorda R, Rocchi M, Zuffardi O. Pramparo T, et al. Among authors: pirola b. Eur J Hum Genet. 2004 Sep;12(9):713-7. doi: 10.1038/sj.ejhg.5201240. Eur J Hum Genet. 2004. PMID: 15266302
Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome.
Micaglio E, Andronache AA, Carrera P, Monasky MM, Locati ET, Pirola B, Presi S, Carminati M, Ferrari M, Giamberti A, Pappone C. Micaglio E, et al. Among authors: pirola b. Int J Mol Sci. 2019 Dec 11;20(24):6247. doi: 10.3390/ijms20246247. Int J Mol Sci. 2019. PMID: 31835735 Free PMC article.