Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de novo Mutation in the CAMK2B Gene (c.328G>A p.Glu110Lys)

por Dwyer, Bonnie K., Veenma, Danielle C. M., Chang, Kiki, Schulman, Howard, Van Woerden, Geeske M.
Publicado 2022

Comparable Low-Level Mosaicism in Affected and Non Affected Tissue of a Complex CDH Patient

por Veenma, Danielle, Beurskens, Niels, Douben, Hannie, Eussen, Bert, Noomen, Petra, Govaerts, Lutgarde, Grijseels, Els, Lequin, Maarten, de Krijger, Ronald, Tibboel, Dick, de Klein, Annelies, Van Opstal, Dian
Publicado 2010

Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?

por Gaillard, Linda, Goverde, Anne, van den Bosch, Quincy C. C., Jehee, Fernanda S., Brosens, Erwin, Veenma, Danielle, Magielsen, Frank, de Klein, Annelies, Mathijssen, Irene M. J., van Dooren, Marieke F.
Publicado 2021

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity

por Costain, Gregory, Walker, Susan, Marano, Maria, Veenma, Danielle, Snell, Meaghan, Curtis, Meredith, Luca, Stephanie, Buera, Jason, Arje, Danielle, Reuter, Miriam S., Thiruvahindrapuram, Bhooma, Trost, Brett, Sung, Wilson W. L., Yuen, Ryan K. C., Chitayat, David, Mendoza-Londono, Roberto, Stavropoulos, D. James, Scherer, Stephen W., Marshall, Christian R., Cohn, Ronald D., Cohen, Eyal, Orkin, Julia, Meyn, M. Stephen, Hayeems, Robin Z.
Publicado 2020

Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge

por Brosens, Erwin, Peters, Nina C. J., van Weelden, Kim S., Bendixen, Charlotte, Brouwer, Rutger W. W., Sleutels, Frank, Bruggenwirth, Hennie T., van Ijcken, Wilfred F. J., Veenma, Danielle C. M., Otter, Suzan C. M. Cochius-Den, Wijnen, Rene M. H., Eggink, Alex J., van Dooren, Marieke F., Reutter, Heiko Martin, Rottier, Robbert J., Schnater, J. Marco, Tibboel, Dick, de Klein, Annelies
Publicado 2022