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

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