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266 results

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Page 1
Proteomic landscapes of inherited platelet disorders with different etiologies.
Kreft IC, Huisman EJ, Cnossen MH, van Alphen FPJ, van der Zwaan C, van Leeuwen K, van Spaendonk R, Porcelijn L, Veen CSB, van den Biggelaar M, de Haas M, Meijer AB, Hoogendijk AJ. Kreft IC, et al. Among authors: van leeuwen k, van der zwaan c, van den biggelaar m, van alphen fpj, van spaendonk r. J Thromb Haemost. 2023 Feb;21(2):359-372.e3. doi: 10.1016/j.jtha.2022.11.021. Epub 2022 Dec 22. J Thromb Haemost. 2023. PMID: 36700500 Free article.
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.
de Boer M, van Leeuwen K, Geissler J, van Alphen F, de Vries E, van der Kuip M, Terheggen SWJ, Janssen H, van den Berg TK, Meijer AB, Roos D, Kuijpers TW. de Boer M, et al. Among authors: van leeuwen k, van den berg tk, van der kuip m, van alphen f. Hum Mutat. 2017 Oct;38(10):1402-1411. doi: 10.1002/humu.23271. Epub 2017 Jun 15. Hum Mutat. 2017. PMID: 28585318
Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees.
Sprenkeler EGG, Tool ATJ, Kreft IC, van Alphen FPJ; NBR-RD PID Consortium, NIHR BioResource; Seneviratne SL, Maimaris J, Luqmani A, van Leeuwen K, van Bruggen R, Burns SO, Kuijpers TW. Sprenkeler EGG, et al. Among authors: van leeuwen k, van bruggen r, van alphen fpj. Br J Haematol. 2020 Dec;191(5):930-934. doi: 10.1111/bjh.17081. Epub 2020 Sep 23. Br J Haematol. 2020. PMID: 32966608 Free article. No abstract available.
Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency.
Kuijpers TW, Tool ATJ, van der Bijl I, de Boer M, van Houdt M, de Cuyper IM, Roos D, van Alphen F, van Leeuwen K, Cambridge EL, Arends MJ, Dougan G, Clare S, Ramirez-Solis R, Pals ST, Adams DJ, Meijer AB, van den Berg TK. Kuijpers TW, et al. Among authors: van leeuwen k, van der bijl i, van houdt m, van den berg tk, van alphen f. J Allergy Clin Immunol. 2017 Jul;140(1):273-277.e10. doi: 10.1016/j.jaci.2016.09.061. Epub 2016 Dec 10. J Allergy Clin Immunol. 2017. PMID: 27965109 No abstract available.
A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family.
Köker N, Deveci İ, van Leeuwen K, Akbayram S, Roos D, Kuijpers TW, Köker MY. Köker N, et al. Among authors: van leeuwen k. J Clin Immunol. 2023 May;43(4):741-746. doi: 10.1007/s10875-022-01420-4. Epub 2023 Jan 17. J Clin Immunol. 2023. PMID: 36648575
Complex medical history of a patient with a compound heterozygous mutation in C1QC.
Lubbers R, Beaart-van de Voorde LJJ, van Leeuwen K, de Boer M, Gelderman KA, van den Berg MJ, Ketel AG, Simon A, de Ree J, Huizinga TWJ, Steup-Beekman GM, Trouw LA. Lubbers R, et al. Among authors: van leeuwen k, van den berg mj. Lupus. 2019 Sep;28(10):1255-1260. doi: 10.1177/0961203319865029. Epub 2019 Jul 29. Lupus. 2019. PMID: 31357913 Free PMC article.
Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey.
Yaz I, Ozbek B, Bildik HN, Tan C, Oskay Halacli S, Soyak Aytekin E, Esenboga S, Cekic S, Kilic SS, Keskin O, van Leeuwen K, Roos D, Cagdas D, Tezcan I. Yaz I, et al. Among authors: van leeuwen k. Clin Exp Immunol. 2021 Oct;206(1):47-55. doi: 10.1111/cei.13645. Epub 2021 Aug 5. Clin Exp Immunol. 2021. PMID: 34310689 Free PMC article. Clinical Trial.
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D, van Leeuwen K, Madkaikar M, Kambli PM, Gupta M, Mathews V, Rawat A, Kuhns DB, Holland SM, de Boer M, Kanegane H, Parvaneh N, Lorenz M, Schwarz K, Klein C, Sherkat R, Jafari M, Wolach B, den Dunnen JT, Kuijpers TW, Köker MY. Roos D, et al. Among authors: van leeuwen k. Blood Cells Mol Dis. 2023 Mar;99:102726. doi: 10.1016/j.bcmd.2023.102726. Epub 2023 Jan 20. Blood Cells Mol Dis. 2023. PMID: 36696755
266 results