Search

Author/Creator Corsten‐Janssen, Nicole

1. A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound. (20th July 2020)

Authors:
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...
Journal:
Prenatal diagnosis
Issue:
Volume 40:Number 10(2020)
Page Start:
1300
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects. Issue 12 (24th September 2014)

Authors:
Corsten‐Janssen, Nicole; du Marchie Sarvaas, Gideon J.; Kerstjens‐Frederikse, Wilhelmina S.; Hoefsloot, Lies H.; van Beynum, Ingrid M.; Kapusta, Livia; van Ravenswaaij‐Arts, Conny M.A.
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 12(2014.)
Page Start:
3003
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes. Issue 11 (22nd September 2014)

Authors:
Snijders Blok, Charlotte; Corsten‐Janssen, Nicole; FitzPatrick, David R.; Romano, Corrado; Fichera, Marco; Vitello, Girolamo Aurelio; Willemsen, Marjolein H.; Schoots, Jeroen; Pfundt, Rolph; van Ravenswaaij‐Arts, Conny M.A.; Hoefsloot, Lies; Kleefstra, Tjitske
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 11(2014.)
Page Start:
2843
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy. (22nd October 2021)

Authors:
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.
Other Names:
Van den Veyver Igna guestEditor.
Journal:
Prenatal diagnosis
Issue:
Volume 42:Number 6(2022)
Page Start:
762
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. The effects of an online decision aid to support the reproductive decision‐making process of genetically at risk couples—A pilot study. Issue 1 (3rd September 2022)

Authors:
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, Lies...
Journal:
Journal of genetic counseling
Issue:
Volume 32:Issue 1(2023)
Page Start:
153
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Issue 12 (24th September 2018)

Authors:
Granadillo, Jorge L.; Chung, Wendy K.; Hecht, Leah; Corsten‐Janssen, Nicole; Wegner, Daniel; Nij Bijvank, Sebastiaan W.A.; Toler, Tomi L.; Pineda‐Alvarez, Daniel E.; Douglas, Ganka; Murphy, Joshua J.; Shimony, Joshua; Shinawi, Marwan
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1875
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗