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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.
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, van haelst mm, van haaften g, van berkestijn fm, van vught aj. 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.
Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three-generation clinical report.
Ross J, Fennis W, de Leeuw N, Cune M, Willemze A, Rosenberg A, Ploos van Amstel HK, Créton M, van den Boogaard MJ. Ross J, et al. Among authors: ploos van amstel hk. Mol Genet Genomic Med. 2019 Jun;7(6):e679. doi: 10.1002/mgg3.679. Epub 2019 Apr 4. Mol Genet Genomic Med. 2019. PMID: 30950205 Free PMC article.
51 results