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

Year Number of Results
2004 1
2006 1
2007 2
2008 3
2009 3
2010 5
2011 6
2012 4
2013 6
2014 7
2015 9
2016 5
2017 3
2018 5
2019 5
2020 3
2021 4
2022 5
2023 1
2024 1

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63 results

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Page 1
Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching.
Maassen W, Legger G, Kul Cinar O, van Daele P, Gattorno M, Bader-Meunier B, Wouters C, Briggs T, Johansson L, van der Velde J, Swertz M, Omoyinmi E, Hoppenreijs E, Belot A, Eleftheriou D, Caorsi R, Aeschlimann F, Boursier G, Brogan P, Haimel M, van Gijn M. Maassen W, et al. Among authors: hoppenreijs e. Front Immunol. 2023 Sep 12;14:1215869. doi: 10.3389/fimmu.2023.1215869. eCollection 2023. Front Immunol. 2023. PMID: 37781402 Free PMC article.
A boy with recurrent swelling of the jaw.
Haverals L, Mattheij M, Hoppenreijs E, Bergé S, van der Weij A. Haverals L, et al. Among authors: hoppenreijs e. Pediatr Rep. 2018 Jan 4;9(4):7489. doi: 10.4081/pr.2017.7489. eCollection 2017 Nov 21. Pediatr Rep. 2018. PMID: 29383223 Free PMC article. No abstract available.
"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
Olyha SJ, O'Connor SK, Kribis M, Bucklin ML, Uthaya Kumar DB, Tyler PM, Alam F, Jones KM, Sheikha H, Konnikova L, Lakhani SA, Montgomery RR, Catanzaro J, Du H, DiGiacomo DV, Rothermel H, Moran CJ, Fiedler K, Warner N, Hoppenreijs EPAH, van der Made CI, Hoischen A, Olbrich P, Neth O, Rodríguez-Martínez A, Lucena Soto JM, van Rossum AMC, Dalm VASH, Muise AM, Lucas CL. Olyha SJ, et al. Among authors: hoppenreijs epah. J Clin Immunol. 2024 Jan 17;44(2):44. doi: 10.1007/s10875-023-01610-8. J Clin Immunol. 2024. PMID: 38231408
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
Haimel M, Pazmandi J, Heredia RJ, Dmytrus J, Bal SK, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, Aeschlimann FA, Caorsi R, Eleftheriou D, Hoppenreijs E, Salzer E, Bakhtiar S, Derfalvi B, Saettini F, Kusters MAA, Elfeky R, Trück J, Rivière JG, van der Burg M, Gattorno M, Seidel MG, Burns S, Warnatz K, Hauck F, Brogan P, Gilmour KC, Schuetz C, Simon A, Bock C, Hambleton S, de Vries E, Robinson PN, van Gijn M, Boztug K. Haimel M, et al. Among authors: hoppenreijs e. J Allergy Clin Immunol. 2022 Jan;149(1):369-378. doi: 10.1016/j.jaci.2021.04.033. Epub 2021 May 12. J Allergy Clin Immunol. 2022. PMID: 33991581 Free PMC article.
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Hebert A, Simons A, Schuurs-Hoeijmakers JHM, Koenen HJPM, Zonneveld-Huijssoon E, Henriet SSV, Schatorjé EJH, Hoppenreijs EPAH, Leenders EKSM, Janssen EJM, Santen GWE, de Munnik SA, van Reijmersdal SV, van Rijssen E, Kersten S, Netea MG, Smeets RL, van de Veerdonk FL, Hoischen A, van der Made CI. Hebert A, et al. Among authors: hoppenreijs epah. Elife. 2022 Oct 17;11:e78469. doi: 10.7554/eLife.78469. Elife. 2022. PMID: 36250618 Free PMC article.
Gene signature fingerprints stratify SLE patients in groups with similar biological disease profiles: a multicentre longitudinal study.
Wahadat MJ, Schonenberg-Meinema D, van Helden-Meeuwsen CG, van Tilburg SJ, Groot N, Schatorjé EJH, Hoppenreijs EPAH, Hissink Muller PCE, Brinkman DMC, Dvorak D, Verkaaik M, van den Berg JM, Bouchalova K, Kamphuis S, Versnel MA. Wahadat MJ, et al. Among authors: hoppenreijs epah. Rheumatology (Oxford). 2022 Nov 2;61(11):4344-4354. doi: 10.1093/rheumatology/keac083. Rheumatology (Oxford). 2022. PMID: 35143620 Free PMC article.
63 results