Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity()()

por Corsten-Janssen, Nicole, van Ravenswaaij-Arts, Conny M.A., Kapusta, Livia
Publicado 2016

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

por Engwerda, Aafke, Kerstjens-Frederikse, Wilhelmina S., Corsten-Janssen, Nicole, Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M. A.
Publicado 2023

Maternal occupational exposure and congenital heart defects in offspring

por Spinder, Nynke, Bergman, Jorieke EH, Kromhout, Hans, Vermeulen, Roel, Corsten-Janssen, Nicole, Boezen, H Marike, Sarvaas, Gideon J du Marchie, de Walle, Hermien EK
Publicado 2020

Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy

por Plantinga, Mirjam, Zwienenberg, Lauren, van Dijk, Eva, Breet, Hanna, Diphoorn, Janouk, El  Mecky, Julia, Bouman, Katelijne, Verheij, Joke, Birnie, Erwin, Ranchor, Adelita V., Corsten‐Janssen, Nicole, van Langen, Irene M.
Publicado 2021

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

por Corsten‐Janssen, Nicole, Bouman, Katelijne, Diphoorn, Janouk C. D., Scheper, Arjen J., Kinds, Rianne, el Mecky, Julia, Breet, Hanna, Verheij, Joke B. G. M., Suijkerbuijk, Ron, Duin, Leonie K., Manten, Gwendolyn T. R., van Langen, Irene M., Sijmons, Rolf H., Sikkema‐Raddatz, Birgit, Westers, Helga, van Diemen, Cleo C.
Publicado 2020

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

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

por Deden, Chantal, Neveling, Kornelia, Zafeiropopoulou, Dimitra, Gilissen, Christian, Pfundt, Rolph, Rinne, Tuula, de Leeuw, Nicole, Faas, Brigitte, Gardeitchik, Thatjana, Sallevelt, Suzanne C. E. H., Paulussen, Aimee, Stevens, Servi J. C., Sikkel, Esther, Elting, Mariet W., van Maarle, Merel C., Diderich, Karin E. M., Corsten‐Janssen, Nicole, Lichtenbelt, Klaske D., Lachmeijer, Guus, Vissers, Lisenka E. L. M., Yntema, Helger G., Nelen, Marcel, Feenstra, Ilse, van Zelst‐Stams, Wendy A. G.
Publicado 2020