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 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 2016

What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping...

por van Zutven, Laura J. C. M., Mijalkovic, Jona, van Veghel-Plandsoen, Monique, Goense, Margaret, Polak, Marike, Knapen, Maarten F. C. M., de Weerd, Sabina, Joosten, Marieke, Diderich, Karin E. M., Hoefsloot, Lies H., Van Opstal, Diane, Srebniak, Malgorzata I.
Publicado 2023

Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature

por Rosenberg, Anna G. W., Wellink, Charlotte M., Tellez Garcia, Juan M., Pellikaan, Karlijn, Van Abswoude, Denise H., Davidse, Kirsten, Van Zutven, Laura J. C. M., Brüggenwirth, Hennie T., Resnick, James L., Van der Lely, Aart J., De Graaff, Laura C. G.
Publicado 2022

Social and medical need for whole genome high resolution NIPT

por Srebniak, Malgorzata I., Knapen, Maarten F. C. M., Govaerts, Lutgarde C. P., Polak, Marike, Joosten, Marieke, Diderich, Karin E. M., van Zutven, Laura J. C. M., Prinsen, Krista A. K. E., Riedijk, Sam, Go, Attie T. J. I., Galjaard, Robert‐Jan H., Hoefsloot, Lies H., Van Opstal, Diane
Publicado 2019

The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature

por Pellikaan, Karlijn, van Woerden, Geeske M., Kleinendorst, Lotte, Rosenberg, Anna G. W., Horsthemke, Bernhard, Grosser, Christian, van Zutven, Laura J. C. M., van Rossum, Elisabeth F. C., van der Lely, Aart J., Resnick, James L., Brüggenwirth, Hennie T., van Haelst, Mieke M., de Graaff, Laura C. G.
Publicado 2021

Does non‐invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population‐based register study

por de Groot‐van der Mooren, Maurike, de Graaf, Gert, Weijerman, Michel E, Hoffer, Mariette J. V, Knijnenburg, Jeroen, van der Kevie‐Kersemaekers, Anne‐Marie M. F, Kooper, Angelique J. A, Voorhoeve, Els, Sikkema‐Raddatz, Birgit, van Zutven, Laura J. C. M, Srebniak, Malgorzata Ilona, Huijsdens‐van Amsterdam, Karin, Engelen, John J. M, Smeets, Dominique, van Kaam, Anton H, Cornel, Martina C
Publicado 2021