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

Year Number of Results
2002 1
2003 4
2004 3
2005 2
2006 1
2007 1
2008 1
2009 2
2011 1
2012 2
2013 1
2014 1
2015 5
2016 2
2018 4
2019 2
2020 4
2021 8
2022 7
2023 5
2024 2

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55 results

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Page 1
Autoimmune hepatitis in genetic syndromes: A literature review.
Capra AP, Chiara E, Briuglia S. Capra AP, et al. Among authors: briuglia s. World J Hepatol. 2021 Oct 27;13(10):1328-1340. doi: 10.4254/wjh.v13.i10.1328. World J Hepatol. 2021. PMID: 34786169 Free PMC article. Review.
Neurofibromatosis: New Clinical Challenges in the Era of COVID-19.
Ardizzone A, Capra AP, Campolo M, Filippone A, Esposito E, Briuglia S. Ardizzone A, et al. Among authors: briuglia s. Biomedicines. 2022 Apr 19;10(5):940. doi: 10.3390/biomedicines10050940. Biomedicines. 2022. PMID: 35625677 Free PMC article. Review.
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
Recalcati MP, Catusi I, Garzo M, Redaelli S, Massimello M, Maitz SB, Gentile M, Ponzi E, Orsini P, Zilio A, Montaldi A, Calò A, Capra AP, Briuglia S, La Rosa MA, Grillo L, Romano C, Bianca S, Malacarne M, Busè M, Piccione M, Larizza L. Recalcati MP, et al. Among authors: briuglia s. Genes (Basel). 2022 Apr 27;13(5):780. doi: 10.3390/genes13050780. Genes (Basel). 2022. PMID: 35627165 Free PMC article. Review.
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.
Luppe J, Sticht H, Lecoquierre F, Goldenberg A, Gorman KM, Molloy B, Agolini E, Novelli A, Briuglia S, Kuismin O, Marcelis C, Vitobello A, Denommé-Pichon AS, Julia S, Lemke JR, Abou Jamra R, Platzer K. Luppe J, et al. Among authors: briuglia s. Eur J Hum Genet. 2023 Mar;31(3):345-352. doi: 10.1038/s41431-022-01269-6. Epub 2022 Dec 23. Eur J Hum Genet. 2023. PMID: 36564538 Free PMC article.
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
van der Laan L, Karimi K, Rooney K, Lauffer P, McConkey H, Caro P, Relator R, Levy MA, Bhai P, Mignot C, Keren B, Briuglia S, Sobering AK, Li D, Vissers LELM, Dingemans AJM, Valenzuela I, Verberne EA, Misra-Isrie M, Zwijnenburg PJG, Waisfisz Q, Alders M, Sailer S, Schaaf CP, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: briuglia s. Genet Med. 2024 Mar;26(3):101050. doi: 10.1016/j.gim.2023.101050. Epub 2023 Dec 18. Genet Med. 2024. PMID: 38126281 Free article.
55 results