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

Year Number of Results
2002 1
2004 3
2005 1
2006 2
2007 2
2009 1
2010 2
2011 3
2013 1
2014 3
2015 1
2016 9
2017 7
2018 5
2019 1
2020 3
2021 2
2022 5
2024 0

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46 results

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Page 1
Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).
Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, Kone-Paut I, Goldbach-Mansky R, Lachmann H, Blank N, Hoffman HM, Weissbarth-Riedel E, Hugle B, Kallinich T, Gattorno M, Gul A, Ter Haar N, Oswald M, Dedeoglu F, Cantarini L, Benseler SM. Kuemmerle-Deschner JB, et al. Among authors: hugle b. Ann Rheum Dis. 2017 Jun;76(6):942-947. doi: 10.1136/annrheumdis-2016-209686. Epub 2016 Oct 4. Ann Rheum Dis. 2017. PMID: 27707729 Review.
Mutations in topoisomerase IIβ result in a B cell immunodeficiency.
Broderick L, Yost S, Li D, McGeough MD, Booshehri LM, Guaderrama M, Brydges SD, Kucharova K, Patel NC, Harr M, Hakonarson H, Zackai E, Cowell IG, Austin CA, Hügle B, Gebauer C, Zhang J, Xu X, Wang J, Croker BA, Frazer KA, Putnam CD, Hoffman HM. Broderick L, et al. Among authors: hugle b. Nat Commun. 2019 Aug 13;10(1):3644. doi: 10.1038/s41467-019-11570-6. Nat Commun. 2019. PMID: 31409799 Free PMC article.
Hoffman syndrome: New patients, new insights.
Hügle B, Hoffman H, Bird LM, Gebauer C, Suchowerskyj P, Sack U, Kohlhase J, Schuster V. Hügle B, et al. Am J Med Genet A. 2011 Jan;155A(1):149-53. doi: 10.1002/ajmg.a.33678. Epub 2010 Dec 10. Am J Med Genet A. 2011. PMID: 21204224
46 results