Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review

por Tjon, Jill K., Lakeman, Phillis, van Leeuwen, Elisabeth, Waisfisz, Quinten, Weiss, Marjan M., Tan‐Sindhunata, Gita M. B., Nikkels, Peter G. J., van der Voorn, Patrick J. P., Salomons, Gajja S., Burchell, George L., Linskens, Ingeborg H., van der Knoop, Bloeme J., de Vries, Johanna I. P.
Publicado 2021

The effects of an online decision aid to support the reproductive decision‐making process of genetically at risk couples—A pilot study

por Severijns, Yil, Heijmans, Maartje W. F., de Die‐Smulders, Christine E. M., Bijlsma, Emilia K., Corsten‐Janssen, Nicole, Joosten, Sara J. R., van Kuijk, Sander M. J., Lichtenbelt, Klaske D., Ottenheim, Cecile P. E., Stuurman, Kyra E., Tan‐Sindhunata, Gita M. B., de Vries, Hein, van Osch, Liesbeth A. D. M.
Publicado 2022

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

por Roscioli, Tony, Kamsteeg, Erik-Jan, Buysse, Karen, Maystadt, Isabelle, van Reeuwijk, Jeroen, van den Elzen, Christa, van Beusekom, Ellen, Riemersma, Moniek, Pfundt, Rolph, Vissers, Lisenka E.L.M., Schraders, Margit, Altunoglu, Umut, Buckley, Michael F., Brunner, Han G., Grisart, Bernard, Zhou, Huiqing, Veltman, Joris A., Gilissen, Christian, Mancini, Grazia M.S., Delrée, Paul, Willemsen, Michèl A., Ramadža, Danijela Petković, Chitayat, David, Bennett, Christopher, Sheridan, Eamonn, Peeters, Els A.J., Tan-Sindhunata, Gita M.B., de Die-Smulders, Christine E., Devriendt, Koenraad, Kayserili, Hülya, El-Hashash, Osama Abd El-Fattah, Stemple, Derek L., Lefeber, Dirk J., Lin, Yung-Yao, van Bokhoven, Hans
Publicado 2012