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A missense mutation in CASK causes FG syndrome in an Italian family.
Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE, Neri G, Nigro V. Piluso G, et al. Am J Hum Genet. 2009 Feb;84(2):162-77. doi: 10.1016/j.ajhg.2008.12.018. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200522 Free PMC article.
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
Licastro D, Mutarelli M, Peluso I, Neveling K, Wieskamp N, Rispoli R, Vozzi D, Athanasakis E, D'Eustacchio A, Pizzo M, D'Amico F, Ziviello C, Simonelli F, Fabretto A, Scheffer H, Gasparini P, Banfi S, Nigro V. Licastro D, et al. PLoS One. 2012;7(8):e43799. doi: 10.1371/journal.pone.0043799. Epub 2012 Aug 29. PLoS One. 2012. PMID: 22952768 Free PMC article.
Proportion of inflammatory bowel diseases patients with suboptimal disease control in daily clinical practice-Real-world evidence from the inflammatory bowel diseases-podcast study.
D'Amico F, Gomollón F, Bamias G, Magro F, Targownik L, Leitner C, Heatta-Speicher T, Michelena N, Kolterer S, Lapthorn J, Kauffman L, Dignass A; IBD PODCAST investigators. D'Amico F, et al. United European Gastroenterol J. 2024 May 11. doi: 10.1002/ueg2.12572. Online ahead of print. United European Gastroenterol J. 2024. PMID: 38733307 Free article.
745 results