Discordant NIPT result in a viable trisomy‐21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy‐14 cotwin

Por Hochstenbach, Ron, Elferink, Martin G., van Zon, Patrick H. A., Lichtenbelt, Klaske D., van Harssel, Jeske, Schuring‐Blom, Heleen, Page‐Christiaens, Godelieve C.M.L.
Publicado no Clin Case Rep (2018)

Cell-free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case

Por Hochstenbach, Ron, Nikkels, Peter G J, Elferink, Martin G, Oudijk, Martijn A, van Oppen, Carla, van Zon, Patrick, van Harssel, Jeske, Schuring-Blom, Heleen, Page-Christiaens, Godelieve C M L
Publicado no Clin Case Rep (2015)

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome

Por Telegrafi, Aida, Webb, Bryn D., Robbins, Sarah M., Speck-Martins, Carlos E., FitzPatrick, David, Fleming, Leah, Redett, Richard, Dufke, Andres, Houge, Gunnar, van Harssel, Jeske J.T., Verloes, Alain, Robles, Angela, Manoli, Irini, Engle, Elizabeth C., Jabs, Ethylin Wang, Valle, David, Carey, John, Hoover-Fong, Julie E., Sobreira, Nara L.M.
Publicado no Am J Med Genet A (2017)