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Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia.
Reeskamp LF, Balvers M, Peter J, van de Kerkhof L, Klaaijsen LN, Motazacker MM, Grefhorst A, van Riel NAW, Hovingh GK, Defesche JC, Zuurbier L. Reeskamp LF, et al. Among authors: van de kerkhof l, van riel naw. Atherosclerosis. 2021 Mar;321:14-20. doi: 10.1016/j.atherosclerosis.2021.02.003. Epub 2021 Feb 8. Atherosclerosis. 2021. PMID: 33601267 Free article.
An integrated strategy for prediction uncertainty analysis.
Vanlier J, Tiemann CA, Hilbers PA, van Riel NA. Vanlier J, et al. Bioinformatics. 2012 Apr 15;28(8):1130-5. doi: 10.1093/bioinformatics/bts088. Epub 2012 Feb 21. Bioinformatics. 2012. PMID: 22355081 Free PMC article.
A Bayesian approach to targeted experiment design.
Vanlier J, Tiemann CA, Hilbers PA, van Riel NA. Vanlier J, et al. Bioinformatics. 2012 Apr 15;28(8):1136-42. doi: 10.1093/bioinformatics/bts092. Epub 2012 Feb 24. Bioinformatics. 2012. PMID: 22368245 Free PMC article.
104 results