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Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.
Huizing M, Pederson B, Hess RA, Griffin A, Helip-Wooley A, Westbroek W, Dorward H, O'Brien KJ, Golas G, Tsilou E, White JG, Gahl WA. Huizing M, et al. Among authors: white jg. J Med Genet. 2009 Dec;46(12):803-10. doi: 10.1136/jmg.2008.065961. Epub 2009 Oct 20. J Med Genet. 2009. PMID: 19843503 Free PMC article.
Novel mutations in the HPS1 gene among Puerto Rican patients.
Carmona-Rivera C, Hess RA, O'Brien K, Golas G, Tsilou E, White JG, Gahl WA, Huizing M. Carmona-Rivera C, et al. Among authors: white jg. Clin Genet. 2011 Jun;79(6):561-7. doi: 10.1111/j.1399-0004.2010.01491.x. Clin Genet. 2011. PMID: 20662851
Hermansky-Pudlak syndrome: the importance of molecular subtyping.
Thielen N, Huizing M, Krabbe JG, White JG, Jansen TJ, Merle PA, Gahl WA, Zweegman S. Thielen N, et al. Among authors: white jg. J Thromb Haemost. 2010 Jul;8(7):1643-5. doi: 10.1111/j.1538-7836.2010.03898.x. Epub 2010 Apr 30. J Thromb Haemost. 2010. PMID: 20456745 Free PMC article. No abstract available.
775 results