A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

Por Knijnenburg, Jeroen, van Bever, Yolande, Hulsman, Lorette O M, van Kempen, Chantal A P, Bolman, Galhana M, van Loon, Rosa Laura E, Beverloo, H Berna, van Zutven, Laura J C M
Publicado em 2012

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

Por Williams, Monique, Burlina, Alberto, Rubert, Laura, Polo, Giulia, Ruijter, George J. G., van den Born, Myrthe, Rüfenacht, Véronique, Haskins, Nantaporn, van Zutven, Laura J. C. M., Tuchman, Mendel, Saris, Jasper J., Häberle, Johannes, Caldovic, Ljubica
Publicado no Sci Rep (2018)

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

Por Srebniak, Malgorzata I., van Zutven, Laura J. C. M., Petit, Florence, Bouquillon, Sonia, van Heel, Ilse P. J., Knapen, Maarten F. C. M., Cornette, Jerome M. J., Kremer, Andreas, Van Opstal, Diane, Diderich, Karin E. M.
Publicado no Mol Cytogenet (2016)

A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study

Por Den Boer, Monique L., van Slegtenhorst, Marjon, De Menezes, Renée X., Cheok, Meyling H., Buijs-Gladdines, Jessica G.C.A.M., Peters, Susan T.C.J.M., Van Zutven, Laura J.C.M., Beverloo, H. Berna, Van der Spek, Peter J., Escherich, Gaby, Horstmann, Martin A., Janka-Schaub, Gritta E., Kamps, Willem A., Evans, William E., Pieters, Rob
Publicado em 2009