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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 2
2007 4
2008 1
2009 5
2010 3
2011 2
2012 3
2013 4
2014 5
2015 10
2016 2
2017 4
2018 6
2019 8
2020 8
2021 10
2022 7
2023 6
2024 2

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80 results

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Page 1
Hypoglycaemia Metabolic Gene Panel Testing.
Maiorana A, Lepri FR, Novelli A, Dionisi-Vici C. Maiorana A, et al. Among authors: lepri fr. Front Endocrinol (Lausanne). 2022 Mar 29;13:826167. doi: 10.3389/fendo.2022.826167. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35422763 Free PMC article. Review.
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.
Coccia E, Valeri L, Zuntini R, Caraffi SG, Peluso F, Pagliai L, Vezzani A, Pietrangiolillo Z, Leo F, Melli N, Fiorini V, Greco A, Lepri FR, Pisaneschi E, Marozza A, Carli D, Mussa A, Radio FC, Conti B, Iascone M, Gargano G, Novelli A, Tartaglia M, Zuffardi O, Bedeschi MF, Garavelli L. Coccia E, et al. Among authors: lepri fr. Genes (Basel). 2023 Feb 22;14(3):549. doi: 10.3390/genes14030549. Genes (Basel). 2023. PMID: 36980822 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.
The diagnostic challenge of mild citrulline elevation at newborn screening.
Siri B, Olivieri G, Angeloni A, Cairoli S, Carducci C, Cotugno G, Di Michele S, Giovanniello T, La Marca G, Lepri FR, Novelli A, Rossi C, Semeraro M, Dionisi-Vici C. Siri B, et al. Among authors: lepri fr. Mol Genet Metab. 2022 Apr;135(4):327-332. doi: 10.1016/j.ymgme.2022.02.008. Epub 2022 Feb 20. Mol Genet Metab. 2022. PMID: 35279366
Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, Petrocchi S, Pisaneschi E, Bellacchio E, Capolino R, Braguglia A, Angioni A, Dotta A, Digilio MC, Dallapiccola B. Dentici ML, et al. Among authors: lepri fr. Arch Dis Child. 2015 Feb;100(2):158-64. doi: 10.1136/archdischild-2013-305858. Epub 2014 Oct 3. Arch Dis Child. 2015. PMID: 25281733 Review.
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.
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Digilio MC, Calcagni G, Gnazzo M, Versacci P, Dentici ML, Capolino R, Sinibaldi L, Baban A, Putotto C, Alfieri P, Unolt M, Lepri FR, Alesi V, Genovese S, Novelli A, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: lepri fr. Am J Med Genet A. 2022 Apr;188(4):1149-1159. doi: 10.1002/ajmg.a.62632. Epub 2021 Dec 31. Am J Med Genet A. 2022. PMID: 34971082
The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature.
Pepi C, de Palma L, Trivisano M, Pietrafusa N, Lepri FR, Diociaiuti A, Camassei FD, Carfi-Pavia G, De Benedictis A, Rossi-Espagnet C, Vigevano F, Marras CE, Novelli A, Bluemcke I, Specchio N. Pepi C, et al. Among authors: lepri fr. Brain Sci. 2021 Jun 16;11(6):793. doi: 10.3390/brainsci11060793. Brain Sci. 2021. PMID: 34208656 Free PMC article. Review.
80 results