Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia.

Autor: Reeskamp LF; Department of Vascular Medicine, Amsterdam UMC, Location AMC, University of Amsterdam, Amsterdam, the Netherlands., Balvers M; Department of Experimental Vascular Medicine, Amsterdam UMC, Location AMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Biomedical Engineering, Eindhoven University of Technology, Eindhoven, the Netherlands; HORAIZON Technology BV, Delft, the Netherlands., Peter J; Department of Experimental Vascular Medicine, Amsterdam UMC, Location AMC, University of Amsterdam, Amsterdam, the Netherlands., van de Kerkhof L; Department of Clinical Genetics, Amsterdam UMC, Location AMC, University of Amsterdam, Amsterdam, the Netherlands., Klaaijsen LN; Department of Clinical Genetics, Amsterdam UMC, Location AMC, University of Amsterdam, Amsterdam, the Netherlands., Motazacker MM; Department of Clinical Genetics, Amsterdam UMC, Location AMC, University of Amsterdam, Amsterdam, the Netherlands., Grefhorst A; Department of Experimental Vascular Medicine, Amsterdam UMC, Location AMC, University of Amsterdam, Amsterdam, the Netherlands., van Riel NAW; Department of Experimental Vascular Medicine, Amsterdam UMC, Location AMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Biomedical Engineering, Eindhoven University of Technology, Eindhoven, the Netherlands., Hovingh GK; Department of Vascular Medicine, Amsterdam UMC, Location AMC, University of Amsterdam, Amsterdam, the Netherlands., Defesche JC; Department of Clinical Genetics, Amsterdam UMC, Location AMC, University of Amsterdam, Amsterdam, the Netherlands., Zuurbier L; Department of Clinical Genetics, Amsterdam UMC, Location AMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address: l.c.zuurbier@amsterdamumc.nl.

Publikováno v: Atherosclerosis [Atherosclerosis] 2021 Mar; Vol. 321, pp. 14-20. Date of Electronic Publication: 2021 Feb 08.

A robustness and audibility analysis of a temporal envelope modulating audio watermark.

Autor: Lemma, A.N., Aprea, J., Oomen, W., van de Kerkhof, L.

Publikováno v: Proceedings of 2002 IEEE 10th Digital Signal Processing Workshop, 2002 & the 2nd Signal Processing Education Workshop; 2002, p62-67, 6p

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A father's role in the sexual health education of their children: a scoping review.

Autor: Schaafsma, Dilana¹ d.schaafsma@fontys.nl

Publikováno v: Sex Education. Sep2023, Vol. 23 Issue 5, p524-539. 16p.

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