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Page 1
Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study.
Tagliaferri F, Iannuzzi R, Canciani G, Bernabei SM, Campana C, Caviglia S, Greco B, Lepri FR, Novelli A, Pizzoferro M, Garganese MC, Spada M, Francalanci P, Dionisi-Vici C, Maiorana A. Tagliaferri F, et al. Among authors: lepri fr. Horm Res Paediatr. 2024 May 28:1-13. doi: 10.1159/000538943. Online ahead of print. Horm Res Paediatr. 2024. PMID: 38806014
Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine.
Šikić K, Peters TMA, Engelke U, Petković Ramadža D, Žigman T, Fumić K, Davidović M, Huljev Frković S, Körmendy T, Martinelli D, Novelli A, Lepri FR, Wevers RA, Barić I. Šikić K, et al. Among authors: lepri fr. JIMD Rep. 2024 Jul 19;65(6):361-370. doi: 10.1002/jmd2.12439. eCollection 2024 Nov. JIMD Rep. 2024. PMID: 39512429 Free PMC article.
A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report.
Artesani MC, Santarsiero S, Sitzia E, Lepri FR, Magliozzi M, Majo F, Ullmann N, Stracuzzi A, Novelli A, Cristalli G, Fiocchi A. Artesani MC, et al. Among authors: lepri fr. Front Pediatr. 2024 May 30;12:1345265. doi: 10.3389/fped.2024.1345265. eCollection 2024. Front Pediatr. 2024. PMID: 38873586 Free PMC article.
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M. Dentici ML, et al. Among authors: lepri fr. Eur J Hum Genet. 2024 Aug;32(8):954-963. doi: 10.1038/s41431-024-01642-7. Epub 2024 Jun 1. Eur J Hum Genet. 2024. PMID: 38824261
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2.
Finocchi A, Pacillo L, Chiriaco M, Di Matteo G, Francalanci P, Angelino G, Caldaro T, Rivalta B, O'Mara M, Zhang S, Lepri FR, Novelli A, De Angelis P, Knaus UG, Rea F. Finocchi A, et al. Among authors: lepri fr. Front Genet. 2023 Nov 23;14:1276697. doi: 10.3389/fgene.2023.1276697. eCollection 2023. Front Genet. 2023. PMID: 38075699 Free PMC article.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: lepri fr. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
55 results