Bakker E - Search Results

1

TREX1 mutations are not associated with sporadic inclusion body myositis.

Cox FM, Boon EM, van der Lans CA, Bakker E, Verschuuren JJ, Badrising UA. Cox FM, et al. Among authors: bakker e. Eur J Neurol. 2010 Aug;17(8):1108-9. doi: 10.1111/j.1468-1331.2010.02964.x. Epub 2010 Feb 23. Eur J Neurol. 2010. PMID: 20192983

2

Population-based incidence and prevalence of facioscapulohumeral dystrophy.

Deenen JC, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJ, Bakker E, Weinreich SS, Verbeek AL, van Engelen BG. Deenen JC, et al. Among authors: bakker e. Neurology. 2014 Sep 16;83(12):1056-9. doi: 10.1212/WNL.0000000000000797. Epub 2014 Aug 13. Neurology. 2014. PMID: 25122204 Free PMC article.

3

Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients.

Helderman-van den Enden AT, Straathof CS, Aartsma-Rus A, den Dunnen JT, Verbist BM, Bakker E, Verschuuren JJ, Ginjaar HB. Helderman-van den Enden AT, et al. Among authors: bakker e. Neuromuscul Disord. 2010 Apr;20(4):251-4. doi: 10.1016/j.nmd.2010.01.013. Epub 2010 Feb 13. Neuromuscul Disord. 2010. PMID: 20153965

4

Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

Helderman-van den Enden AT, van den Bergen JC, Breuning MH, Verschuuren JJ, Tibben A, Bakker E, Ginjaar HB. Helderman-van den Enden AT, et al. Among authors: bakker e. Clin Genet. 2011 Mar;79(3):236-42. doi: 10.1111/j.1399-0004.2010.01579.x. Epub 2010 Nov 11. Clin Genet. 2011. PMID: 21070212

5

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

Gijsbers AC, Dauwerse JG, Bosch CA, Boon EM, van den Ende W, Kant SG, Hansson KM, Breuning MH, Bakker E, Ruivenkamp CA. Gijsbers AC, et al. Among authors: bakker e. Eur J Med Genet. 2011 Jul-Aug;54(4):e409-12. doi: 10.1016/j.ejmg.2011.05.002. Epub 2011 May 23. Eur J Med Genet. 2011. PMID: 21664500

6

A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma.

van den Oever JM, van Minderhout IJ, Harteveld CL, den Hollander NS, Bakker E, van der Stoep N, Boon EM. van den Oever JM, et al. Among authors: bakker e. J Mol Diagn. 2015 Sep;17(5):590-6. doi: 10.1016/j.jmoldx.2015.05.006. Epub 2015 Jul 7. J Mol Diagn. 2015. PMID: 26162331 Free article.

7

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.

Phylipsen M, Yamsri S, Treffers EE, Jansen DT, Kanhai WA, Boon EM, Giordano PC, Fucharoen S, Bakker E, Harteveld CL. Phylipsen M, et al. Among authors: bakker e. Prenat Diagn. 2012 Jun;32(6):578-87. doi: 10.1002/pd.3864. Epub 2012 Apr 20. Prenat Diagn. 2012. PMID: 22517437

8

Pre- and postsynaptic neuromuscular junction abnormalities in musk myasthenia.

Niks EH, Kuks JB, Wokke JH, Veldman H, Bakker E, Verschuuren JJ, Plomp JJ. Niks EH, et al. Among authors: bakker e. Muscle Nerve. 2010 Aug;42(2):283-8. doi: 10.1002/mus.21642. Muscle Nerve. 2010. PMID: 20544919

9

Mrassf1a-pap, a novel methylation-based assay for the detection of cell-free fetal DNA in maternal plasma.

van den Oever JM, Balkassmi S, Segboer T, Verweij EJ, van der Velden PA, Oepkes D, Bakker E, Boon EM. van den Oever JM, et al. Among authors: bakker e. PLoS One. 2013 Dec 31;8(12):e84051. doi: 10.1371/journal.pone.0084051. eCollection 2013. PLoS One. 2013. PMID: 24391879 Free PMC article.

10

Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma.

van den Oever JM, Bijlsma EK, Feenstra I, Muntjewerff N, Mathijssen IB, Bakker E, van Belzen MJ, Boon EM. van den Oever JM, et al. Among authors: bakker e. Prenat Diagn. 2015 Oct;35(10):945-9. doi: 10.1002/pd.4593. Epub 2015 Apr 5. Prenat Diagn. 2015. PMID: 25767004

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

1,108 results

Search Page

Filters