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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27.
Am J Hum Genet. 2021.
PMID: 33909990
Free PMC article.
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis.
Olde Keizer RACM, Marouane A, Deden AC, van Zelst-Stams WAG, de Boode WP, Keusters WR, Henneman L, van Amstel JKP, Frederix GWJ, Vissers LELM.
Olde Keizer RACM, et al. Among authors: deden ac.
Eur J Med Genet. 2022 May;65(5):104467. doi: 10.1016/j.ejmg.2022.104467. Epub 2022 Mar 1.
Eur J Med Genet. 2022.
PMID: 35240323
Free article.
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Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Marouane A, Neveling K, Deden AC, van den Heuvel S, Zafeiropoulou D, Castelein S, van de Veerdonk F, Koolen DA, Simons A, Rodenburg R, Westra D, Mensenkamp AR, de Leeuw N, Ligtenberg M, Matthijsse R, Pfundt R, Kamsteeg EJ, Brunner HG, Gilissen C, Feenstra I, de Boode WP, Yntema HG, van Zelst-Stams WAG, Nelen M, Vissers LELM.
Marouane A, et al. Among authors: deden ac.
Front Genet. 2024 Jan 8;14:1304520. doi: 10.3389/fgene.2023.1304520. eCollection 2023.
Front Genet. 2024.
PMID: 38259611
Free PMC article.
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Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Olde Keizer RACM, Marouane A, Kerstjens-Frederikse WS, Deden AC, Lichtenbelt KD, Jonckers T, Vervoorn M, Vreeburg M, Henneman L, de Vries LS, Sinke RJ, Pfundt R, Stevens SJC, Andriessen P, van Lingen RA, Nelen M, Scheffer H, Stemkens D, Oosterwijk C, van Amstel HKP, de Boode WP, van Zelst-Stams WAG, Frederix GWJ, Vissers LELM; RADICON-NL consortium.
Olde Keizer RACM, et al. Among authors: deden ac.
Eur J Pediatr. 2023 Jun;182(6):2683-2692. doi: 10.1007/s00431-023-04909-1. Epub 2023 Mar 31.
Eur J Pediatr. 2023.
PMID: 36997769
Free PMC article.
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Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.
Deden AC, van Slegtenhorst MA, Ruijter GJG, Schoonderwoerd GC, Huidekoper HH, Oussoren E, Brooks AS, Demirdas S.
Deden AC, et al.
Clin Chim Acta. 2018 Sep;484:231. doi: 10.1016/j.cca.2018.06.003. Epub 2018 Jun 2.
Clin Chim Acta. 2018.
PMID: 29870682
No abstract available.
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Minimal access surgery for repair of congenital diaphragmatic hernia: is it advantageous?--An open review.
Vijfhuize S, Deden AC, Costerus SA, Sloots CE, Wijnen RM.
Vijfhuize S, et al. Among authors: deden ac.
Eur J Pediatr Surg. 2012 Oct;22(5):364-73. doi: 10.1055/s-0032-1329532. Epub 2012 Oct 31.
Eur J Pediatr Surg. 2012.
PMID: 23114977
Review.
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[Understanding the diagnostic delay in rare diseases].
Deden AC, Alma MA, Van Zelst-Stam WAG.
Deden AC, et al.
Ned Tijdschr Geneeskd. 2020 Apr 30;164:D4157.
Ned Tijdschr Geneeskd. 2020.
PMID: 32395952
Dutch.
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[A teenage girl with non-infectious osteomyelitis].
Deden AC, Hissink Muller P, Appelman-Dijkstra NM, Kroon HM, Tramper-Stranders GA.
Deden AC, et al.
Ned Tijdschr Geneeskd. 2017;161:D1475.
Ned Tijdschr Geneeskd. 2017.
PMID: 28677513
Dutch.
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