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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 1
1988 1
1994 2
1995 1
1996 3
1998 2
1999 5
2000 1
2002 1
2003 2
2004 1
2005 3
2006 2
2008 1
2010 2
2011 1
2013 1
2014 3
2015 1
2017 1
2019 1
2020 1
2021 1
2022 1
2023 1
2024 0

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36 results

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Page 1
Isolated and contiguous glycerol kinase gene disorders: a review.
Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT. Sjarif DR, et al. Among authors: ploos van amstel jk. J Inherit Metab Dis. 2000 Sep;23(6):529-47. doi: 10.1023/a:1005660826652. J Inherit Metab Dis. 2000. PMID: 11032329 Review.
Vascular defects associated with hereditary hemorrhagic telangiectasia revealed in patient-derived isogenic iPSCs in 3D vessels on chip.
Orlova VV, Nahon DM, Cochrane A, Cao X, Freund C, van den Hil F, Westermann CJJ, Snijder RJ, Ploos van Amstel JK, Ten Dijke P, Lebrin F, Mager HJ, Mummery CL. Orlova VV, et al. Among authors: ploos van amstel jk. Stem Cell Reports. 2022 Jul 12;17(7):1536-1545. doi: 10.1016/j.stemcr.2022.05.022. Epub 2022 Jun 30. Stem Cell Reports. 2022. PMID: 35777360 Free PMC article.
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
Wurfbain LF, Cox IL, van Dooren MF, Lachmeijer AMA, Verhoeven VJM, van Hagen JM, Heijligers M, Klein Wassink-Ruiter JS, Koene S, Maas SM, Veenstra-Knol HE, Ploos van Amstel JK, Massink MPG, Mink van der Molen AB, van den Boogaard MH. Wurfbain LF, et al. Among authors: ploos van amstel jk. Mol Syndromol. 2023 Aug;14(4):270-282. doi: 10.1159/000530256. Epub 2023 Jun 8. Mol Syndromol. 2023. PMID: 37589029 Free PMC article.
Variability in dentofacial phenotypes in four families with WNT10A mutations.
Vink CP, Ockeloen CW, ten Kate S, Koolen DA, Ploos van Amstel JK, Kuijpers-Jagtman AM, van Heumen CC, Kleefstra T, Carels CE. Vink CP, et al. Among authors: ploos van amstel jk. Eur J Hum Genet. 2014 Sep;22(9):1063-70. doi: 10.1038/ejhg.2013.300. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398796 Free PMC article.
SMAD4 mutations found in unselected HHT patients.
Gallione CJ, Richards JA, Letteboer TG, Rushlow D, Prigoda NL, Leedom TP, Ganguly A, Castells A, Ploos van Amstel JK, Westermann CJ, Pyeritz RE, Marchuk DA. Gallione CJ, et al. Among authors: ploos van amstel jk. J Med Genet. 2006 Oct;43(10):793-7. doi: 10.1136/jmg.2006.041517. Epub 2006 Apr 13. J Med Genet. 2006. PMID: 16613914 Free PMC article.
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: ploos van amstel jk. 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
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.
Letteboer TG, Mager JJ, Snijder RJ, Koeleman BP, Lindhout D, Ploos van Amstel JK, Westermann CJ. Letteboer TG, et al. Among authors: ploos van amstel jk. J Med Genet. 2006 Apr;43(4):371-7. doi: 10.1136/jmg.2005.035451. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155196 Free PMC article.
36 results