J.C.D. Diphoorn

Faculty of Medical Sciences

Telephone:

+31 50 361 6700

E-mail:

j.c.d.diphoorn umcg.nl

Research Portal

Publications

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

Corsten-Janssen, N. , Bouman, K. , Diphoorn, J. C. D. , Scheper, A. J., Kinds, R., El Mecky, J. , Breet, H. , Verheij, J. B. G. M., Suijkerbuijk, R., Duin, L. K. , Manten, G. T. R., van Langen, I. M. , Sijmons, R. H. , Sikkema-Raddatz, B. , Westers, H. & van Diemen, C. C. , Sep-2020 , In: Prenatal Diagnosis. 40 , 10 , p. 1300-1309 24 p.

Research output: Contribution to journal › Article › Academic › peer-review

Parental experiences of rapid Exome Sequencing in case of serious ultrasound abnormalities during pregnancy

Plantinga, M. , Zwienenberg, L. , van Dijk, E., Breet, H. , Diphoorn, J. , el Mecky, J. , Bouman, K. , Verheij, J., Ranchor, A. , Corsten-Janssen, N. & van Langen, I. , Dec-2020 , In: European Journal of Human Genetics. 28 , SUPPL 1 , p. 172-172 1 p.

Research output: Contribution to journal › Meeting Abstract › Academic

Clinical implementation of diagnostic whole exome sequencing for fetal multiple congenital anomalies on ultrasound

Corsten-Janssen, N. , Diphoorn, J. C. D. , Bouman, K. , El Mecky, J. , Verheij, J. B. G. M., Kerstjens, W. S. , Scheper, A., Kinds, R., van Langen, I. M. , Sinke, R. J. , Sijmons, R. H. , Sikkema-Raddatz, B. , Westers, H. & van Diemen, C. C. , Oct-2019 , In: European Journal of Human Genetics. 27 , p. 1213-1213 1 p.

Research output: Contribution to journal › Meeting Abstract › Academic

All (3) publications

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