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Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity.
Odorisio T, Di Salvio M, Orecchia A, Di Zenzo G, Piccinni E, Cianfarani F, Travaglione A, Uva P, Bellei B, Conti A, Zambruno G, Castiglia D. Odorisio T, et al. Among authors: uva p. Hum Mol Genet. 2014 Aug 1;23(15):3907-22. doi: 10.1093/hmg/ddu102. Epub 2014 Mar 5. Hum Mol Genet. 2014. PMID: 24599399
Fourmidable: a database for ant genomics.
Wurm Y, Uva P, Ricci F, Wang J, Jemielity S, Iseli C, Falquet L, Keller L. Wurm Y, et al. Among authors: uva p. BMC Genomics. 2009 Jan 6;10:5. doi: 10.1186/1471-2164-10-5. BMC Genomics. 2009. PMID: 19126223 Free PMC article.
Orione, a web-based framework for NGS analysis in microbiology.
Cuccuru G, Orsini M, Pinna A, Sbardellati A, Soranzo N, Travaglione A, Uva P, Zanetti G, Fotia G. Cuccuru G, et al. Among authors: uva p. Bioinformatics. 2014 Jul 1;30(13):1928-9. doi: 10.1093/bioinformatics/btu135. Epub 2014 Mar 10. Bioinformatics. 2014. PMID: 24618473 Free PMC article.
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Höhne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LM, Okur I, Boduroglu K, Utine GE, Kılıç E, Zampino G, Crisponi G, Crisponi L, Rutsch F. Angius A, et al. Among authors: uva p. Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016.05.026. Am J Hum Genet. 2016. PMID: 27392078 Free PMC article.
109 results