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

Year Number of Results
1951 1
1985 1
1990 1
1992 1
1996 1
1997 1
1998 1
1999 4
2000 5
2001 2
2002 3
2003 8
2004 11
2005 4
2006 2
2007 2
2008 8
2009 4
2010 4
2011 5
2012 4
2013 8
2014 8
2015 8
2016 4
2017 4
2018 6
2019 8
2020 10
2021 15
2022 12
2023 14
2024 2

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153 results

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Page 1
Update on trabecular bone score.
Palomo T, Muszkat P, Weiler FG, Dreyer P, Brandão CMA, Silva BC. Palomo T, et al. Arch Endocrinol Metab. 2022 Nov 11;66(5):694-706. doi: 10.20945/2359-3997000000559. Arch Endocrinol Metab. 2022. PMID: 36382759 Free PMC article. Review.
Genetic testing in bleeding disorders.
de Brasi C, El-Maarri O, Perry DJ, Oldenburg J, Pezeshkpoor B, Goodeve A. de Brasi C, et al. Haemophilia. 2014 May;20 Suppl 4(0 4):54-8. doi: 10.1111/hae.12409. Haemophilia. 2014. PMID: 24762276 Free PMC article. Review.
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
Amenta S, Marangi G, Orteschi D, Frangella S, Gurrieri F, Paccagnella E; Telethon Undiagnosed Diseases Program (TUDP) Study Group; Scala M, Romano F, Capra V, Nigro V, Zollino M. Amenta S, et al. Eur J Hum Genet. 2023 Jun;31(6):648-653. doi: 10.1038/s41431-023-01305-z. Epub 2023 Feb 16. Eur J Hum Genet. 2023. PMID: 36797464 Review.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
Scurvy in childhood: do not forget it.
Sabbatino MS, DE Seta F, DE Brasi D, Santoro C, Esposito F, Siani P. Sabbatino MS, et al. Minerva Pediatr (Torino). 2022 Jun;74(3):378-380. doi: 10.23736/S2724-5276.20.05586-3. Epub 2020 Jul 7. Minerva Pediatr (Torino). 2022. PMID: 32639115 No abstract available.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
Systemic Cat-Scratch Disease: a "Troublesome" Diagnosis.
Sarno M, Rosanio FM, De Brasi D, Santoro C, Lo Vecchio A, Esposito F, Siani P, Vajro P, Mandato C. Sarno M, et al. Pediatr Infect Dis J. 2021 Mar 1;40(3):e117-e119. doi: 10.1097/INF.0000000000002996. Pediatr Infect Dis J. 2021. PMID: 33230057
Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.
De Brasi D, Orlando F, Gaeta V, De Liso M, Acquaviva F, Martemucci L, Mastrominico A, Di Rocco M. De Brasi D, et al. Genes (Basel). 2021 Jul 30;12(8):1187. doi: 10.3390/genes12081187. Genes (Basel). 2021. PMID: 34440363 Free PMC article.
153 results