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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
Bayram Y, White JJ, Elcioglu N, Cho MT, Zadeh N, Gedikbasi A, Palanduz S, Ozturk S, Cefle K, Kasapcopur O, Coban Akdemir Z, Pehlivan D, Begtrup A, Carvalho CMB, Paine IS, Mentes A, Bektas-Kayhan K, Karaca E, Jhangiani SN, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, Lupski JR. Bayram Y, et al. Among authors: gedikbasi a. Am J Hum Genet. 2017 Jul 6;101(1):149-156. doi: 10.1016/j.ajhg.2017.06.006. Am J Hum Genet. 2017. PMID: 28686854 Free PMC article.
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.
Bonora E, Bianco F, Cordeddu L, Bamshad M, Francescatto L, Dowless D, Stanghellini V, Cogliandro RF, Lindberg G, Mungan Z, Cefle K, Ozcelik T, Palanduz S, Ozturk S, Gedikbasi A, Gori A, Pippucci T, Graziano C, Volta U, Caio G, Barbara G, D'Amato M, Seri M, Katsanis N, Romeo G, De Giorgio R. Bonora E, et al. Among authors: gedikbasi a. Gastroenterology. 2015 Apr;148(4):771-782.e11. doi: 10.1053/j.gastro.2014.12.034. Epub 2015 Jan 6. Gastroenterology. 2015. PMID: 25575569 Free PMC article.
135 results