Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up

מאת Huffnagel, Irene C., Redeker, Egbert J. W., Reneman, Liesbeth, Vaz, Frédéric M., Ferdinandusse, Sacha, Poll-The, Bwee Tien
הוצא לאור ב JIMD Rep (2017)

Framing the potential of public frameshift peptides as immunotherapy targets in colon cancer

מאת Spaanderman, Ide T., Peters, Fleur S., Jongejan, Aldo, Redeker, Egbert J. W., Punt, Cornelis J. A., Bins, Adriaan D.
הוצא לאור ב PLoS One (2021)

Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders

מאת Redeker, Egbert J.W., de Visser, Annette S.H., Bergen, Arthur A.B., Mannens, Marcel M.A.M.
יצא לאור 2008

With expanded carrier screening, founder populations run the risk of being overlooked

מאת Mathijssen, Inge B., van Maarle, Merel C., Kleiss, Iris I.M., Redeker, Egbert J.W., ten Kate, Leo P., Henneman, Lidewij, Meijers-Heijboer, Hanne
הוצא לאור ב J Community Genet (2017)

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

מאת Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne
הוצא לאור ב Fam Cancer (2016)

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

מאת Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K., Johansson, Lennart F., van Essen, Anthonie J., Verheij, Johanna B. G. M., Veenstra-Knol, Hermine E., Redeker, Egbert J. W., Mannens, Marcel M. A. M., Swertz, Morris A., Alizadeh, Behrooz Z., van Ravenswaaij-Arts, Conny M. A., Sinke, Richard J., Sikkema-Raddatz, Birgit
הוצא לאור ב BMC Med Genomics (2016)

Cancer Risks for PMS2-Associated Lynch Syndrome

מאת ten Broeke, Sanne W., van der Klift, Heleen M., Tops, Carli M.J., Aretz, Stefan, Bernstein, Inge, Buchanan, Daniel D., de la Chapelle, Albert, Capella, Gabriel, Clendenning, Mark, Engel, Christoph, Gallinger, Steven, Gomez Garcia, Encarna, Figueiredo, Jane C., Haile, Robert, Hampel, Heather L., van Hest, Liselotte, Hopper, John L., Hoogerbrugge, Nicoline, von Knebel Doeberitz, Magnus, Le Marchand, Loic, Letteboer, Tom G.W., Jenkins, Mark A., Lindblom, Annika, Lindor, Noralane M., Mensenkamp, Arjen R., Møller, Pål, Newcomb, Polly A., van Os, Theo A.M., Pearlman, Rachel, Pineda, Marta, Rahner, Nils, Redeker, Egbert J.W., Olderode-Berends, Maran J.W., Rosty, Christophe, Schackert, Hans K., Scott, Rodney, Senter, Leigha, Spruijt, Liesbeth, Steinke-Lange, Verena, Suerink, Manon, Thibodeau, Stephen, Vos, Yvonne J., Wagner, Anja, Winship, Ingrid, Hes, Frederik J., Vasen, Hans F.A., Wijnen, Juul T., Nielsen, Maartje, Win, Aung Ko
הוצא לאור ב J Clin Oncol (2018)