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Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients.
Clin Endocrinol (Oxf). 2011 Nov;75(5):650-5. doi: 10.1111/j.1365-2265.2011.04097.x.
Clin Endocrinol (Oxf). 2011.
PMID: 21561462
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.
Hensen EF, Jansen JC, Siemers MD, Oosterwijk JC, Vriends AH, Corssmit EP, Bayley JP, van der Mey AG, Cornelisse CJ, Devilee P.
Hensen EF, et al. Among authors: siemers md.
Eur J Hum Genet. 2010 Jan;18(1):62-6. doi: 10.1038/ejhg.2009.112.
Eur J Hum Genet. 2010.
PMID: 19584903
Free PMC article.
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Paediatric hypopharyngeal perforation: child abuse until proved otherwise?
Thevasagayam MS, Siemers MD, Debelle GD, Donaldsdon I, Kuo MK.
Thevasagayam MS, et al. Among authors: siemers md.
Int J Pediatr Otorhinolaryngol. 2007 Apr;71(4):665-70. doi: 10.1016/j.ijporl.2006.12.013. Epub 2007 Feb 14.
Int J Pediatr Otorhinolaryngol. 2007.
PMID: 17303256
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Is a "vanishing tumor" always a lymphoma?
Bromberg JE, Siemers MD, Taphoorn MJ.
Bromberg JE, et al. Among authors: siemers md.
Neurology. 2002 Sep 10;59(5):762-4. doi: 10.1212/wnl.59.5.762.
Neurology. 2002.
PMID: 12221174
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