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Year Number of Results
2008 1
2010 1
2012 4
2013 4
2014 2
2015 2
2016 3
2017 1
2019 2
2021 1
2022 3
2023 5
2024 2

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25 results

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Page 1
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Westra D, et al. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L, Frankhuizen WS, Linssen WHJP, Straathof CS, Niks EH, Faber K, Fock A, Kuks JB, Brusse E, de Coo R, Voermans N, Verrips A, Hoogendijk JE, van der Pol L, Westra D, de Visser M, van der Kooi AJ, Ginjaar I. Ten Dam L, et al. Among authors: westra d. Clin Genet. 2019 Aug;96(2):126-133. doi: 10.1111/cge.13544. Epub 2019 May 6. Clin Genet. 2019. PMID: 30919934
Long-term follow-up including extensive complement analysis of a pediatric C3 glomerulopathy cohort.
Michels MAHM, Wijnsma KL, Kurvers RAJ, Westra D, Schreuder MF, van Wijk JAE, Bouts AHM, Gracchi V, Engels FAPT, Keijzer-Veen MG, Dorresteijn EM, Volokhina EB, van den Heuvel LPWJ, van de Kar NCAJ. Michels MAHM, et al. Among authors: westra d. Pediatr Nephrol. 2022 Mar;37(3):601-612. doi: 10.1007/s00467-021-05221-6. Epub 2021 Sep 2. Pediatr Nephrol. 2022. PMID: 34476601 Free PMC article.
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.
Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus PM, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R. Persani L, et al. Among authors: westra d. Endocr Connect. 2022 Nov 14;11(12):e220367. doi: 10.1530/EC-22-0367. Print 2022 Dec 1. Endocr Connect. 2022. PMID: 36228316 Free PMC article.
[Partial lipodystrophy: a spot diagnosis].
Fidder AR, van der Deure H, Westra DW. Fidder AR, et al. Among authors: westra dw. Ned Tijdschr Geneeskd. 2015;159:A8872. Ned Tijdschr Geneeskd. 2015. PMID: 26374720 Dutch.
Serological and genetic complement alterations in infection-induced and complement-mediated hemolytic uremic syndrome.
Westra D, Volokhina EB, van der Molen RG, van der Velden TJ, Jeronimus-Klaasen A, Goertz J, Gracchi V, Dorresteijn EM, Bouts AH, Keijzer-Veen MG, van Wijk JA, Bakker JA, Roos A, van den Heuvel LP, van de Kar NC. Westra D, et al. Pediatr Nephrol. 2017 Feb;32(2):297-309. doi: 10.1007/s00467-016-3496-0. Epub 2016 Oct 7. Pediatr Nephrol. 2017. PMID: 27718086 Free PMC article.
Complement Factor H Serum Levels Determine Resistance to Pneumococcal Invasive Disease.
van der Maten E, Westra D, van Selm S, Langereis JD, Bootsma HJ, van Opzeeland FJ, de Groot R, Ruseva MM, Pickering MC, van den Heuvel LP, van de Kar NC, de Jonge MI, van der Flier M. van der Maten E, et al. Among authors: westra d. J Infect Dis. 2016 Jun 1;213(11):1820-7. doi: 10.1093/infdis/jiw029. Epub 2016 Jan 21. J Infect Dis. 2016. PMID: 26802141 Free article.
Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding.
Volokhina E, Westra D, Xue X, Gros P, van de Kar N, van den Heuvel L. Volokhina E, et al. Among authors: westra d. Pediatr Nephrol. 2012 Sep;27(9):1519-24. doi: 10.1007/s00467-012-2183-z. Epub 2012 Jun 6. Pediatr Nephrol. 2012. PMID: 22669319 Free PMC article.
25 results