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Year Number of Results
2004 1
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Page 1
Optic atrophies in metabolic disorders.
Huizing M, Brooks BP, Anikster Y. Huizing M, et al. Mol Genet Metab. 2005 Sep-Oct;86(1-2):51-60. doi: 10.1016/j.ymgme.2005.07.034. Epub 2005 Sep 27. Mol Genet Metab. 2005. PMID: 16194617 Free PMC article. Review.
Molecular defects that affect platelet dense granules.
Gunay-Aygun M, Huizing M, Gahl WA. Gunay-Aygun M, et al. Semin Thromb Hemost. 2004 Oct;30(5):537-47. doi: 10.1055/s-2004-835674. Semin Thromb Hemost. 2004. PMID: 15497096 Free PMC article. Review.
Hereditary inclusion body myopathy: a decade of progress.
Huizing M, Krasnewich DM. Huizing M, et al. Biochim Biophys Acta. 2009 Sep;1792(9):881-7. doi: 10.1016/j.bbadis.2009.07.001. Epub 2009 Jul 24. Biochim Biophys Acta. 2009. PMID: 19596068 Free PMC article. Review.
New observation of sialuria prompts detection of liver tumor in previously reported patient.
Champaigne NL, Leroy JG, Kishnani PS, Decaestecker J, Steenkiste E, Chaubey A, Li J, Verslype C, Van Dorpe J, Pollard L, Goldstein JL, Libbrecht L, Basehore M, Chen N, Hu H, Wood T, Friez MJ, Huizing M, Stevenson RE. Champaigne NL, et al. Mol Genet Metab. 2016 Jun;118(2):92-9. doi: 10.1016/j.ymgme.2016.04.004. Epub 2016 Apr 16. Mol Genet Metab. 2016. PMID: 27142465 Free PMC article.
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. 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.
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.
Vincent LM, Gilbert F, DiPace JI, Ciccone C, Markello TC, Jeong A, Dorward H, Westbroek W, Gahl WA, Bussel JB, Huizing M. Vincent LM, et al. Mol Genet Metab. 2010 Sep;101(1):62-5. doi: 10.1016/j.ymgme.2010.05.015. Epub 2010 Jun 10. Mol Genet Metab. 2010. PMID: 20591709 Free PMC article.
12 results