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

Year Number of Results
1981 2
1982 1
1983 2
1984 1
1985 1
1986 2
1991 1
1992 1
1997 3
1998 2
1999 1
2001 1
2002 1
2003 1
2004 2
2006 5
2007 7
2008 4
2009 2
2010 4
2011 11
2012 11
2013 12
2014 10
2015 8
2016 10
2017 9
2018 6
2019 14
2020 8
2021 18
2022 16
2023 10

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Search Results

164 results

Results by year

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Page 1
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Among authors: buono s. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611
Disruptive CHD8 mutations define a subtype of autism early in development.
Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LELM, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BBA, Katsanis N, Eichler EE. Bernier R, et al. Among authors: buono s. Cell. 2014 Jul 17;158(2):263-276. doi: 10.1016/j.cell.2014.06.017. Epub 2014 Jul 3. Cell. 2014. PMID: 24998929 Free PMC article.
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. Coe BP, et al. Among authors: buono s. Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14. Nat Genet. 2014. PMID: 25217958 Free PMC article.
Functional ingredients from microalgae.
Buono S, Langellotti AL, Martello A, Rinna F, Fogliano V. Buono S, et al. Food Funct. 2014 Aug;5(8):1669-85. doi: 10.1039/c4fo00125g. Food Funct. 2014. PMID: 24957182 Review.
Enteral nutrition and acute mesenteric ischemia.
Iapichino G, Radrizzani D, Zanello M, Tetamo R, Buono S. Iapichino G, et al. Among authors: buono s. Intensive Care Med. 2022 Jun;48(6):781-782. doi: 10.1007/s00134-022-06689-y. Epub 2022 Mar 28. Intensive Care Med. 2022. PMID: 35348818 No abstract available.
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Grandone A, Onore ME, Melone MAB, Straccia G, Melis D, Piccolo V, Limongelli G, Buono S, Perrotta S, Nigro V, Piluso G. Giugliano T, et al. Among authors: buono s. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 Free PMC article.
Focus on localized laryngeal amyloidosis: management of five cases.
Mesolella M, Petruzzi G, Buono S, Salerno G, Salzano FA, Di Lorenzo G, Motta G. Mesolella M, et al. Among authors: buono s. Open Med (Wars). 2020 Apr 20;15(1):327-332. doi: 10.1515/med-2020-0400. eCollection 2020. Open Med (Wars). 2020. PMID: 33335993 Free PMC article. Review.
Management of chest impalement injury.
Bergaminelli C, Salvi R, Mattiacci DM, Messina G, Cicalese M, Curcio C, Buono S, Corcione A, Rispoli M. Bergaminelli C, et al. Among authors: buono s. Int J Surg Case Rep. 2019;61:123-126. doi: 10.1016/j.ijscr.2019.07.043. Epub 2019 Jul 23. Int J Surg Case Rep. 2019. PMID: 31357103 Free PMC article.
BIN1 modulation in vivo rescues dynamin-related myopathy.
Lionello VM, Kretz C, Edelweiss E, Crucifix C, Gómez-Oca R, Messaddeq N, Buono S, Koebel P, Massana Muñoz X, Diedhiou N, Cowling BS, Bitoun M, Laporte J. Lionello VM, et al. Among authors: buono s. Proc Natl Acad Sci U S A. 2022 Mar 1;119(9):e2109576119. doi: 10.1073/pnas.2109576119. Proc Natl Acad Sci U S A. 2022. PMID: 35217605 Free PMC article.
164 results