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Page 1
Reply to Sajantila and Budowle.
Barton DE, Claustres M, Kozich V, Dequeker E, Fowler B, Hehir-Kwa JY, Miller K, Oosterwijk C, Peterlin B, van Ravenswaaij-Arts C, Zimmermann U, Zuffardi O, Hastings RJ. Barton DE, et al. Among authors: fowler b. Eur J Hum Genet. 2016 Mar;24(3):330. doi: 10.1038/ejhg.2014.290. Epub 2015 Jan 14. Eur J Hum Genet. 2016. PMID: 25585701 Free PMC article. No abstract available.
The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe.
Hastings R, de Wert G, Fowler B, Krawczak M, Vermeulen E, Bakker E, Borry P, Dondorp W, Nijsingh N, Barton D, Schmidtke J, van El CG, Vermeesch J, Stol Y, Carmen Howard H, Cornel MC. Hastings R, et al. Among authors: fowler b. Eur J Hum Genet. 2012 Sep;20(9):911-6. doi: 10.1038/ejhg.2012.56. Epub 2012 Mar 28. Eur J Hum Genet. 2012. PMID: 22453292 Free PMC article.
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR. Burda P, et al. Among authors: fowler b. Hum Mutat. 2015 Jun;36(6):611-21. doi: 10.1002/humu.22779. Epub 2015 Apr 27. Hum Mutat. 2015. PMID: 25736335
Foreword to special issue on homocysteine disorders.
Fowler B, Blom HJ, Kožich V. Fowler B, et al. J Inherit Metab Dis. 2011 Feb;34(1):1-2. doi: 10.1007/s10545-010-9257-5. J Inherit Metab Dis. 2011. PMID: 21221810 Free PMC article. No abstract available.
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.
Palhais B, Præstegaard VS, Sabaratnam R, Doktor TK, Lutz S, Burda P, Suormala T, Baumgartner M, Fowler B, Bruun GH, Andersen HS, Kožich V, Andresen BS. Palhais B, et al. Among authors: fowler b. Nucleic Acids Res. 2015 May 19;43(9):4627-39. doi: 10.1093/nar/gkv275. Epub 2015 Apr 15. Nucleic Acids Res. 2015. PMID: 25878036 Free PMC article.
718 results