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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
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 0

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51 results

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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.
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
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.
Genetic obesity: next-generation sequencing results of 1230 patients with obesity.
Kleinendorst L, Massink MPG, Cooiman MI, Savas M, van der Baan-Slootweg OH, Roelants RJ, Janssen ICM, Meijers-Heijboer HJ, Knoers NVAM, Ploos van Amstel HK, van Rossum EFC, van den Akker ELT, van Haaften G, van der Zwaag B, van Haelst MM. Kleinendorst L, et al. Among authors: ploos van amstel hk. J Med Genet. 2018 Sep;55(9):578-586. doi: 10.1136/jmedgenet-2018-105315. Epub 2018 Jul 3. J Med Genet. 2018. PMID: 29970488
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.
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.
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
51 results