Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
1987 1
1988 1
1989 2
1990 3
1992 3
1994 2
1995 3
1996 3
1997 3
1999 1
2000 1
2001 1
2005 1
2006 1
2007 1
2008 1
2010 1
2012 5
2013 3
2014 2
2015 1
2016 2
2017 1
2018 4
2019 4
2020 1
2021 2
2023 2
2024 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

53 results

Results by year

Filters applied: . Clear all
Page 1
The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects.
Blaauwgeers MW, van Asten I, Kruip MJHA, Beckers EAM, Coppens M, Eikenboom J, van Galen KPM, Huisman A, Korporaal SJA, Ploos van Amstel HK, Tamminga RYJ, Urbanus RT, Schutgens REG. Blaauwgeers MW, et al. Among authors: ploos van amstel hk. Am J Hematol. 2020 Jan;95(1):E26-E28. doi: 10.1002/ajh.25667. Epub 2019 Nov 13. Am J Hematol. 2020. PMID: 31659778 Free PMC article. Review. No abstract available.
[Is there more to hypodontia then missing teeth?].
Ross JN, Ruigrok LC, Fennis WMM, Cune MS, Rosenberg AJWP, van Nunen AB, Créton MA, Ploos van Amstel HK, van den Boogaard MJJH. Ross JN, et al. Among authors: ploos van amstel hk. Ned Tijdschr Tandheelkd. 2023 Jun;130(6):277-286. doi: 10.5177/ntvt.2023.06.22098. Ned Tijdschr Tandheelkd. 2023. PMID: 37279496 Dutch.
Mutations in GRIP1 cause Fraser syndrome.
Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM. Vogel MJ, et al. Among authors: ploos van amstel hk. J Med Genet. 2012 May;49(5):303-6. doi: 10.1136/jmedgenet-2011-100590. Epub 2012 Apr 17. J Med Genet. 2012. PMID: 22510445
Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM. van der Crabben SN, et al. Among authors: ploos van amstel hk. Am J Med Genet A. 2014 Jan;164A(1):29-35. doi: 10.1002/ajmg.a.36184. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259184 Review.
Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.
Vermeulen C, Geeven G, de Wit E, Verstegen MJAM, Jansen RPM, van Kranenburg M, de Bruijn E, Pulit SL, Kruisselbrink E, Shahsavari Z, Omrani D, Zeinali F, Najmabadi H, Katsila T, Vrettou C, Patrinos GP, Traeger-Synodinos J, Splinter E, Beekman JM, Kheradmand Kia S, Te Meerman GJ, Ploos van Amstel HK, de Laat W. Vermeulen C, et al. Among authors: ploos van amstel hk. Am J Hum Genet. 2017 Sep 7;101(3):326-339. doi: 10.1016/j.ajhg.2017.07.012. Epub 2017 Aug 24. Am J Hum Genet. 2017. PMID: 28844486 Free PMC article.
Transcriptional and functional profiling identifies inflammation and endothelial-to-mesenchymal transition as potential drivers for phenotypic heterogeneity within a cohort of endothelial colony forming cells.
Laan SNJ, de Boer S, Dirven RJ, van Moort I, Kuipers TB, Mei H, Bierings R, Eikenboom J; SYMPHONY consortium. Laan SNJ, et al. J Thromb Haemost. 2024 Jul;22(7):2027-2038. doi: 10.1016/j.jtha.2024.03.018. Epub 2024 Apr 2. J Thromb Haemost. 2024. PMID: 38574861 Free article.
Discovery of variants unmasked by hemizygous deletions.
Hochstenbach R, Poot M, Nijman IJ, Renkens I, Duran KJ, Van't Slot R, van Binsbergen E, van der Zwaag B, Vogel MJ, Terhal PA, Ploos van Amstel HK, Kloosterman WP, Cuppen E. Hochstenbach R, et al. Among authors: ploos van amstel hk. Eur J Hum Genet. 2012 Jul;20(7):748-53. doi: 10.1038/ejhg.2011.263. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258528 Free PMC article.
Mortality Risk Associated With Truncating Founder Mutations in Titin.
Jansen M, Baas AF, van Spaendonck-Zwarts KY, Ummels AS, van den Wijngaard A, Jongbloed JDH, van Slegtenhorst MA, Lekanne Deprez RH, Wessels MW, Michels M, Houweling AC, Hoorntje ET, Helderman-van den Enden PJTM, Barge-Schaapveld DQCM, Peter van Tintelen J, van den Berg MP, Wilde AAM, Ploos van Amstel HK, Hennekam EAM, Asselbergs FW, Sijbrands EJG, Dooijes D. Jansen M, et al. Among authors: ploos van amstel hk. Circ Genom Precis Med. 2019 May;12(5):e002436. doi: 10.1161/CIRCGEN.118.002436. Circ Genom Precis Med. 2019. PMID: 31112426
53 results