No vessel wall abnormalities in a human foetus with a NOTCH3 mutation

Por Lesnik Oberstein, Saskia A. J., Maat–Schieman, Marion L. C., Boon, Elles M. J., Haan, Joost, Breuning, Martijn H., van Duinen, Sjoerd G.
Publicado em 2008

A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis

Por Grasso, Marina, Boon, Elles M.J., Filipovic-Sadic, Stela, van Bunderen, Patrick A., Gennaro, Elena, Cao, Ru, Latham, Gary J., Hadd, Andrew G., Coviello, Domenico A.
Publicado em 2014

Mrassf1a-Pap, a Novel Methylation-Based Assay for the Detection of Cell-Free Fetal DNA in Maternal Plasma

Por van den Oever, Jessica M. E., Balkassmi, Sahila, Segboer, Tim, Verweij, E. Joanne, van der Velden, Pieter A., Oepkes, Dick, Bakker, Egbert, Boon, Elles M. J.
Publicado em 2013

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

Por Sikkema-Raddatz, Birgit, Johansson, Lennart F., de Boer, Eddy N., Boon, Elles M. J., Suijkerbuijk, Ron F., Bouman, Katelijne, Bilardo, Catia M., Swertz, Morris A., Dijkstra, Martijn, van Langen, Irene M., Sinke, Richard J., te Meerman, Gerard J.
Publicado no Sci Rep (2016)

APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL

Por Gesierich, Benno, Opherk, Christian, Rosand, Jonathan, Gonik, Mariya, Malik, Rainer, Jouvent, Eric, Hervé, Dominique, Adib-Samii, Poneh, Bevan, Steve, Pianese, Luigi, Silvestri, Serena, Dotti, Maria T, De Stefano, Nicola, van der Grond, Jeroen, Boon, Elles M J, Pescini, Francesca, Rost, Natalia, Pantoni, Leonardo, Lesnik Oberstein, Saskia A, Federico, Antonio, Ragno, Michele, Markus, Hugh S, Tournier-Lasserve, Elisabeth, Chabriat, Hugues, Dichgans, Martin, Duering, Marco, Ewers, Michael
Publicado no J Cereb Blood Flow Metab (2016)

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

Por Oepkes, Dick, Page‐Christiaens, G. C. (Lieve), Bax, Caroline J., Bekker, Mireille N., Bilardo, Catia M., Boon, Elles M. J., Schuring‐Blom, G. Heleen, Coumans, Audrey B. C., Faas, Brigitte H., Galjaard, Robert‐Jan H., Go, Attie T., Henneman, Lidewij, Macville, Merryn V. E., Pajkrt, Eva, Suijkerbuijk, Ron F., Huijsdens‐van Amsterdam, Karin, Van Opstal, Diane, Verweij, E. J. (Joanne), Weiss, Marjan M., Sistermans, Erik A.
Publicado no Prenat Diagn (2016)