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The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper.
Roy NBA, Da Costa L, Russo R, Bianchi P, Mañú-Pereira MDM, Fermo E, Andolfo I, Clark B, Proven M, Sanchez M, van Wijk R, van der Zwaag B, Layton M, Rees D, Iolascon A; British Society for Haematology/ European Hematology Association. Roy NBA, et al. Among authors: van wijk r, van der zwaag b. Br J Haematol. 2022 Aug;198(3):459-477. doi: 10.1111/bjh.18191. Epub 2022 Jun 6. Br J Haematol. 2022. PMID: 35661144 No abstract available.
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease.
Boulogne F, Claus LR, Wiersma H, Oelen R, Schukking F, de Klein N, Li S, Westra HJ, van der Zwaag B, van Reekum F; Genomics England Research Consortium; Sierks D, Schönauer R, Li Z, Bijlsma EK, Bos WJW, Halbritter J, Knoers NVAM, Besse W, Deelen P, Franke L, van Eerde AM. Boulogne F, et al. Among authors: van der zwaag b. Eur J Hum Genet. 2023 Nov;31(11):1300-1308. doi: 10.1038/s41431-023-01296-x. Epub 2023 Feb 20. Eur J Hum Genet. 2023. PMID: 36807342 Free PMC article.
Solving a cold case of haemolysis: back to the basics.
Bijleveld R, de Kok J, van der Zwaag B, van Wijk R, Diekman T. Bijleveld R, et al. Among authors: van wijk r, van der zwaag b. Neth J Med. 2015 Feb;73(2):86-9. Neth J Med. 2015. PMID: 25753074 Free article.
Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts.
Satchwell TJ, Bell AJ, Hawley BR, Pellegrin S, Mordue KE, van Deursen CT, Braak NH, Huls G, Leers MP, Overwater E, Tamminga RY, van der Zwaag B, Fermo E, Bianchi P, van Wijk R, Toye AM. Satchwell TJ, et al. Among authors: van wijk r, van der zwaag b, van deursen ct. Haematologica. 2016 Sep;101(9):1018-27. doi: 10.3324/haematol.2016.146209. Epub 2016 May 31. Haematologica. 2016. PMID: 27247322 Free PMC article.
Profound spherocytosis in adulthood: Acquired, hereditary or both?
Langeveld TJC, van Rossum AP, van der Zwaag B, van Wijk R, Vlasveld LT. Langeveld TJC, et al. Among authors: van wijk r, van der zwaag b, van rossum ap. Int J Lab Hematol. 2017 Oct;39(5):e117-e120. doi: 10.1111/ijlh.12685. Epub 2017 May 10. Int J Lab Hematol. 2017. PMID: 28488802 No abstract available.
The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper.
Roy NBA, Da Costa L, Russo R, Bianchi P, Del Mar Mañú-Pereira M, Fermo E, Andolfo I, Clark B, Proven M, Sanchez M, van Wijk R, van der Zwaag B, Layton M, Rees D, Iolascon A. Roy NBA, et al. Among authors: van wijk r, van der zwaag b. Hemasphere. 2022 Jun 6;6(6):e739. doi: 10.1097/HS9.0000000000000739. eCollection 2022 Jun. Hemasphere. 2022. PMID: 35686139 Free PMC article. No abstract available.
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
van Dijk MJ, van Oirschot BA, Stam-Slob MC, Waanders E, van der Zwaag B, van Beers EJ, Jans JJM, van der Linden PW, Torregrosa Diaz JM, Gardie B, Girodon F, Schots R, Thielen N, van Wijk R. van Dijk MJ, et al. Among authors: van der zwaag b. Br J Haematol. 2023 Jan;200(2):249-255. doi: 10.1111/bjh.18485. Epub 2022 Sep 30. Br J Haematol. 2023. PMID: 36177683 Free PMC article. Review.
The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.
van Vuren A, van der Zwaag B, Huisjes R, Lak N, Bierings M, Gerritsen E, van Beers E, Bartels M, van Wijk R. van Vuren A, et al. Among authors: van beers e, van wijk r, van der zwaag b. Hemasphere. 2019 Aug 7;3(4):e276. doi: 10.1097/HS9.0000000000000276. eCollection 2019 Aug. Hemasphere. 2019. PMID: 31723846 Free PMC article.
Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.
Weiss MM, Van der Zwaag B, Jongbloed JD, Vogel MJ, Brüggenwirth HT, Lekanne Deprez RH, Mook O, Ruivenkamp CA, van Slegtenhorst MA, van den Wijngaard A, Waisfisz Q, Nelen MR, van der Stoep N. Weiss MM, et al. Among authors: van slegtenhorst ma, van der zwaag b, van der stoep n, van den wijngaard a. Hum Mutat. 2013 Oct;34(10):1313-21. doi: 10.1002/humu.22368. Epub 2013 Aug 19. Hum Mutat. 2013. PMID: 23776008 Review.
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, van Zon P, van Lieshout S, Elferink MG, van der Burg M, Vermont CL, van der Zwaag B, Janson E, Cuppen E, Ploos van Amstel JK, van Gijn ME. Nijman IJ, et al. Among authors: van lieshout s, van gijn me, van der zwaag b, van de corput l, van der burg m, van montfrans jm, van zon p. J Allergy Clin Immunol. 2014 Feb;133(2):529-34. doi: 10.1016/j.jaci.2013.08.032. Epub 2013 Oct 15. J Allergy Clin Immunol. 2014. PMID: 24139496
80 results