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Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report.
Aiello F, Pasquali D, Baronio F, Cassio A, Rossi C, Di Fraia R, Carotenuto R, Digitale L, Festa A, Luongo C, Maltoni G, Schiano di Cola R, Del Giudice EM, Grandone A. Aiello F, et al. Among authors: del giudice em. J Pediatr Endocrinol Metab. 2022 Nov 10;36(1):91-95. doi: 10.1515/jpem-2022-0365. Print 2023 Jan 27. J Pediatr Endocrinol Metab. 2022. PMID: 36351286
MKRN3 circulating levels in Prader-Willi syndrome: a pilot study.
Mariani M, Fintini D, Cirillo G, Palumbo S, Del Giudice EM, Bocchini S, Manco M, Cappa M, Grandone A. Mariani M, et al. Among authors: del giudice em. J Endocrinol Invest. 2022 Nov;45(11):2165-2170. doi: 10.1007/s40618-022-01860-0. Epub 2022 Jul 19. J Endocrinol Invest. 2022. PMID: 35854182
Novel association between a nonsynonymous variant (R270H) of the G-protein-coupled receptor 120 and liver injury in children and adolescents with obesity.
Marzuillo P, Grandone A, Conte M, Capuano F, Cirillo G, Di Sessa A, Umano GR, Romano R, Perrone L, del Giudice EM. Marzuillo P, et al. Among authors: del giudice em. J Pediatr Gastroenterol Nutr. 2014 Oct;59(4):472-5. doi: 10.1097/MPG.0000000000000463. J Pediatr Gastroenterol Nutr. 2014. PMID: 25250621
96 results