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

Year Number of Results
2004 1
2005 1
2006 2
2007 2
2009 5
2010 1
2011 1
2012 3
2013 1
2014 1
2015 1
2018 1
2019 1
2020 5
2021 2
2022 1
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25 results
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Page 1
Genetics in the art and art in genetics.
Bukvic N, Elling JW. Bukvic N, et al. Gene. 2015 Jan 15;555(1):14-22. doi: 10.1016/j.gene.2014.07.073. Epub 2014 Aug 1. Gene. 2015. PMID: 25089030
Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C).
Piccoli C, Scrima R, D'Aprile A, Chetta M, Cela O, Pacelli C, Ripoli M, D'Andrea G, Margaglione M, Bukvic N, Capitanio N. Piccoli C, et al. Among authors: bukvic n. Genes (Basel). 2021 Aug 24;12(9):1295. doi: 10.3390/genes12091295. Genes (Basel). 2021. PMID: 34573276 Free PMC article.
Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation.
Jordan M, Carmignac V, Sorlin A, Kuentz P, Albuisson J, Borradori L, Bourrat E, Boute O, Bukvic N, Bursztejn AC, Chiaverini C, Delobel B, Fournet M, Martel J, Goldenberg A, Hadj-Rabia S, Mahé A, Maruani A, Mazereeuw J, Mignot C, Morice-Picard F, Moutard ML, Petit F, Pasteur J, Phan A, Whalen S, Willems M, Philippe C, Vabres P. Jordan M, et al. Among authors: bukvic n. J Invest Dermatol. 2020 May;140(5):1106-1110.e2. doi: 10.1016/j.jid.2019.08.455. Epub 2019 Nov 11. J Invest Dermatol. 2020. PMID: 31726051 Free article. No abstract available.
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Laforgia N, De Cosmo L, Palumbo O, Ranieri C, Sesta M, Capodiferro D, Pantaleo A, Iapicca P, Lastella P, Capozza M, Schettini F, Bukvic N, Bagnulo R, Resta N. Laforgia N, et al. Among authors: bukvic n. Genes (Basel). 2020 Dec 18;11(12):1519. doi: 10.3390/genes11121519. Genes (Basel). 2020. PMID: 33353066 Free PMC article.
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Leone MP, Palumbo P, Palumbo O, Di Muro E, Chetta M, Laforgia N, Resta N, Stella A, Castellana S, Mazza T, Castori M, Carella M, Bukvic N. Leone MP, et al. Among authors: bukvic n. Ital J Pediatr. 2020 May 27;46(1):74. doi: 10.1186/s13052-020-00839-y. Ital J Pediatr. 2020. PMID: 32460883 Free PMC article.
25 results