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Year Number of Results
2008 1
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33 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 Free article.
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
46,XX males with congenital adrenal hyperplasia: a clinical and biochemical description.
Adriaansen BPH, Utari A, Westra D, Juniarto AZ, Ariani MD, Ediati A, Schröder MAM, Span PN, Sweep FCGJ, Drop SLS, Faradz SMH, van Herwaarden AE, Claahsen-van der Grinten HL. Adriaansen BPH, et al. Among authors: westra d. Front Endocrinol (Lausanne). 2024 Aug 8;15:1410122. doi: 10.3389/fendo.2024.1410122. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39175568 Free PMC article.
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.
Veldman A, Sikkema-Raddatz B, Derks TGJ, van Karnebeek CDM, Kiewiet MBG, Mulder MF, Nelen MR, Rubio-Gozalbo ME, Sinke RJ, de Sain-van der Velden MG, Visser G, de Vries MC, Westra D, Williams M, Wevers RA, Heiner-Fokkema MR, van Spronsen FJ. Veldman A, et al. Among authors: westra d. Int J Neonatal Screen. 2024 Dec 28;11(1):1. doi: 10.3390/ijns11010001. Int J Neonatal Screen. 2024. PMID: 39846587 Free PMC article.
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G, Westra D, de Boer EN, van Berkel E, Hofste TGJ, van Zweeden M, Derks RC, Leijsten NFA, Ruiterkamp-Versteeg MHA, Charbon B, Johansson L, Bos-Kruizinga J, Veenstra IJ, de Sain-van der Velden MGM, Voorhoeve E, Heiner-Fokkema MR, van Spronsen F, Sikkema-Raddatz B, Nelen M. Kiewiet G, et al. Among authors: westra d. Int J Neonatal Screen. 2024 Mar 7;10(1):20. doi: 10.3390/ijns10010020. Int J Neonatal Screen. 2024. PMID: 38535124 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.
Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.
Oud MS, de Leeuw N, Smeets DFCM, Ramos L, van der Heijden GW, Timmermans RGJ, van de Vorst M, Hofste T, Kempers MJE, Stokman MF, D'Hauwers KWM, Faas BHW, Westra D. Oud MS, et al. Among authors: westra d. Andrology. 2025 Jul;13(5):1078-1092. doi: 10.1111/andr.13742. Epub 2024 Aug 24. Andrology. 2025. PMID: 39180390 Free PMC article.
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.
33 results