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

Year Number of Results
2011 2
2012 2
2013 1
2014 2
2015 1
2016 1
2017 3
2018 1
2019 2
2020 2
2021 3
2022 5
2023 2
2024 1

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Page 1
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez… See abstract for full author list ➔ Crow YJ, et al. Among authors: salvatici e. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
PMM2-CDG and nephrotic syndrome: A case report.
Banderali G, Salvatici E, Rovelli V, Jaeken J. Banderali G, et al. Among authors: salvatici e. Clin Case Rep. 2022 Feb 10;10(2):e05347. doi: 10.1002/ccr3.5347. eCollection 2022 Feb. Clin Case Rep. 2022. PMID: 35154715 Free PMC article.
PKU and COVID19: How the pandemic changed metabolic control.
Rovelli V, Zuvadelli J, Ercoli V, Montanari C, Paci S, Dionigi AR, Scopari A, Salvatici E, Cefalo G, Banderali G. Rovelli V, et al. Among authors: salvatici e. Mol Genet Metab Rep. 2021 Jun;27:100759. doi: 10.1016/j.ymgmr.2021.100759. Epub 2021 Apr 23. Mol Genet Metab Rep. 2021. PMID: 33907667 Free PMC article.
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.
Rovelli V, Cefalo G, Ercoli V, Zuvadelli J, Olivia T, Graziani D, Luisella A, Bassi D, Re Dionigi A, Selmi R, Paci S, Salvatici E, Banderali G. Rovelli V, et al. Among authors: salvatici e. Endocrinol Diabetes Metab. 2023 Mar;6(2):e396. doi: 10.1002/edm2.396. Epub 2022 Dec 19. Endocrinol Diabetes Metab. 2023. PMID: 36537053 Free PMC article.
Phenylketonuria: nutritional advances and challenges.
Giovannini M, Verduci E, Salvatici E, Paci S, Riva E. Giovannini M, et al. Among authors: salvatici e. Nutr Metab (Lond). 2012 Feb 3;9(1):7. doi: 10.1186/1743-7075-9-7. Nutr Metab (Lond). 2012. PMID: 22305125 Free PMC article.
Cerumen: A fundamental but neglected problem by pediatricians.
Marchisio P, Pipolo C, Landi M, Consonni D, Mansi N, Di Mauro G, Salvatici E, Di Pietro P, Esposito S, Felisati G, Principi N; Italian Earwax Study Group. Marchisio P, et al. Among authors: salvatici e. Int J Pediatr Otorhinolaryngol. 2016 Aug;87:55-60. doi: 10.1016/j.ijporl.2016.05.014. Epub 2016 May 20. Int J Pediatr Otorhinolaryngol. 2016. PMID: 27368443
25 results