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Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
BMC Cancer. 2008 May 20;8:140. doi: 10.1186/1471-2407-8-140.
BMC Cancer. 2008.
PMID: 18489799
Free PMC article.
BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic.
Foretova L, Machackova E, Navratilova M, Pavlu H, Hruba M, Lukesova M, Valik D.
Foretova L, et al. Among authors: pavlu h.
Hum Mutat. 2004 Apr;23(4):397-8. doi: 10.1002/humu.9226.
Hum Mutat. 2004.
PMID: 15024741
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High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic.
Vasickova P, Machackova E, Lukesova M, Damborsky J, Horky O, Pavlu H, Kuklova J, Kosinova V, Navratilova M, Foretova L.
Vasickova P, et al. Among authors: pavlu h.
BMC Med Genet. 2007 Jun 11;8:32. doi: 10.1186/1471-2350-8-32.
BMC Med Genet. 2007.
PMID: 17561994
Free PMC article.
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Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.
Pavlů H, Elleder M.
Pavlů H, et al.
J Inherit Metab Dis. 1997 Aug;20(4):615-6. doi: 10.1023/a:1005387932546.
J Inherit Metab Dis. 1997.
PMID: 9266408
No abstract available.
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MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency.
Obenberger J, Seidl Z, Pavlů H, Elleder M.
Obenberger J, et al. Among authors: pavlu h.
Neuroradiology. 1999 Mar;41(3):182-4. doi: 10.1007/s002340050729.
Neuroradiology. 1999.
PMID: 10206162
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