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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: kozich v. 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.
Foreword to special issue on homocysteine disorders.
Fowler B, Blom HJ, Kožich V. Fowler B, et al. Among authors: kozich v. 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.
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).
Claustres M, Kožich 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; European Society of Human Genetics. Claustres M, et al. Among authors: kozich v. Eur J Hum Genet. 2014 Feb;22(2):160-70. doi: 10.1038/ejhg.2013.125. Epub 2013 Aug 14. Eur J Hum Genet. 2014. PMID: 23942201 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: kozich v. Hum Mutat. 2015 Jun;36(6):611-21. doi: 10.1002/humu.22779. Epub 2015 Apr 27. Hum Mutat. 2015. PMID: 25736335
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: kozich v. 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.
161 results