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Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R, Savarese M, Garofalo A, Piluso G, Morandi L, Ricci G, Siciliano G, Angelini C, Nigro V. Torella A, et al. Among authors: rispoli r. PLoS One. 2013 May 7;8(5):e63536. doi: 10.1371/journal.pone.0063536. Print 2013. PLoS One. 2013. PMID: 23667635 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. Among authors: rispoli r. PLoS One. 2012;7(8):e43799. doi: 10.1371/journal.pone.0043799. Epub 2012 Aug 29. PLoS One. 2012. PMID: 22952768 Free PMC article.
Genome-wide meta-analysis implicates variation affecting mast cell biology in urticaria.
McSweeney SM, Saklatvala J, Rispoli R, Ganier C, Woszczek G, Thomas L, Hveem K, Løset M, Dand N, Tziotzios C, Simpson M, McGrath JA. McSweeney SM, et al. Among authors: rispoli r. J Allergy Clin Immunol. 2024 Feb;153(2):521-526.e11. doi: 10.1016/j.jaci.2023.08.033. Epub 2023 Sep 9. J Allergy Clin Immunol. 2024. PMID: 37690594 Free article.
42 results