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Page 1
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Alsaleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp AR, Moilanen J, Nelen M, Ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A. Arts P, et al. Among authors: potjewijd j. Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3. Genome Med. 2019. PMID: 31203817 Free PMC article.
C5b9 Formation on Endothelial Cells Reflects Complement Defects among Patients with Renal Thrombotic Microangiopathy and Severe Hypertension.
Timmermans SAMEG, Abdul-Hamid MA, Potjewijd J, Theunissen ROMFIH, Damoiseaux JGMC, Reutelingsperger CP, van Paassen P; Limburg Renal Registry. Timmermans SAMEG, et al. Among authors: potjewijd j. J Am Soc Nephrol. 2018 Aug;29(8):2234-2243. doi: 10.1681/ASN.2018020184. Epub 2018 Jun 1. J Am Soc Nephrol. 2018. PMID: 29858281 Free PMC article.
An unusual cause of hyperammonaemia.
Nawrot JE, Brouwers M, van Paassen P, Potjewijd J, Nieuwhof C. Nawrot JE, et al. Among authors: potjewijd j. Neth J Med. 2018 Jul;76(5):259. Neth J Med. 2018. PMID: 30019687 Free article. No abstract available.
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.
van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, van Daele PLA, Simons A, Heijstek M, Beck DB, Netea MG, van Paassen P, Elizabeth Hak A, van der Veken LT, van Gijn ME, Hoischen A, van de Veerdonk FL, Leavis HL, Rutgers A. van der Made CI, et al. Among authors: potjewijd j. J Allergy Clin Immunol. 2022 Jan;149(1):432-439.e4. doi: 10.1016/j.jaci.2021.05.014. Epub 2021 May 25. J Allergy Clin Immunol. 2022. PMID: 34048852
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K, Huibers MMH, Hollink IHIM, Simons A, Zonneveld-Huijssoon E, van der Veken LT, Leavis HL, Henriet SSV, van Deuren M, van de Veerdonk FL, Potjewijd J, Berghuis D, Dalm VASH, Vermont CL, van de Ven AAJM, Lambeck AJA, Abbott KM, van Hagen PM, de Bree GJ, Kuijpers TW, Frederix GWJ, van Gijn ME, van Montfrans JM; Genetics First for Primary Immunodeficiency Disorders Consortium. Elsink K, et al. Among authors: potjewijd j. Front Immunol. 2021 Dec 21;12:780134. doi: 10.3389/fimmu.2021.780134. eCollection 2021. Front Immunol. 2021. PMID: 34992599 Free PMC article.
Immunogenicity of the mRNA-1273 COVID-19 vaccine in adult patients with inborn errors of immunity.
van Leeuwen LPM, GeurtsvanKessel CH, Ellerbroek PM, de Bree GJ, Potjewijd J, Rutgers A, Jolink H, van de Veerdonk F, van Gorp ECM, de Wilt F, Bogers S, Gommers L, Geers D, Bruns AHW, Leavis HL, van Haga JW, Lemkes BA, van der Veen A, de Kruijf-Bazen SFJ, van Paassen P, de Leeuw K, van de Ven AAJM, Verbeek-Menken PH, van Wengen A, Arend SM, Ruten-Budde AJ, van der Ent MW, van Hagen PM, Sanders RW, Grobben M, van der Straten K, Burger JA, Poniman M, Nierkens S, van Gils MJ, de Vries RD, Dalm VASH. van Leeuwen LPM, et al. Among authors: potjewijd j. J Allergy Clin Immunol. 2022 Jun;149(6):1949-1957. doi: 10.1016/j.jaci.2022.04.002. Epub 2022 Apr 11. J Allergy Clin Immunol. 2022. PMID: 35421449 Free PMC article. Clinical Trial.
37 results