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Year Number of Results
2012 1
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2016 3
2018 4
2019 3
2020 5
2021 3
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2023 2
2024 0

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Page 1
Epilepsy phenotype in patients with Xp22.31 microduplication.
Brinciotti M, Fioriello F, Mittica A, Bernardini L, Goldoni M, Matricardi M. Brinciotti M, et al. Epilepsy Behav Case Rep. 2018 Nov 4;11:31-34. doi: 10.1016/j.ebcr.2018.10.004. eCollection 2019. Epilepsy Behav Case Rep. 2018. PMID: 30603611 Free PMC article.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Guida V, Sparascio FP, Bernardini L, Pancheri F, Melis D, Cocciadiferro D, Pagnoni M, Puzzo M, Goldoni M, Barone C, Hozhabri H, Putotto C, Giuffrida MG, Briuglia S, Palumbo O, Bianca S, Stanzial F, Benedicenti F, Kariminejad A, Forzano F, Baghernajad Salehi L, Mattina T, Brancati F, Castori M, Carella M, Fadda MT, Iannetti G, Dallapiccola B, Digilio MC, Marino B, Tartaglia M, De Luca A. Guida V, et al. Clin Genet. 2021 Sep;100(3):268-279. doi: 10.1111/cge.13994. Epub 2021 May 24. Clin Genet. 2021. PMID: 33988253
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Sciacchitano S, De Francesco GP, Piane M, Savio C, De Vitis C, Petrucci S, Salvati V, Goldoni M, Fabiani M, Mesoraca A, Micolonghi C, Torres B, Piccinetti A, Pippi R, Mancini R. Sciacchitano S, et al. Diagnostics (Basel). 2022 Nov 30;12(12):2997. doi: 10.3390/diagnostics12122997. Diagnostics (Basel). 2022. PMID: 36553004 Free PMC article.
Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA).
Bidollari E, Rotundo G, Altieri F, Amicucci M, Wiquel D, Ferrari D, Goldoni M, Bernardini L, Consoli F, De Luca A, Fanelli S, Lamorte G, D'Agruma L, Vescovi AL, Squitieri F, Rosati J. Bidollari E, et al. Stem Cell Res. 2019 Oct;40:101551. doi: 10.1016/j.scr.2019.101551. Epub 2019 Aug 27. Stem Cell Res. 2019. PMID: 31493762 Free article.
21 results