Trijnie Dijkhuizen

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62 Article
8 Meeting Abstract
3 Comment/Letter to the editor
3 Letter
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The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1
Engwerda, A., Kerstjens-Frederikse, W. S., Corsten-Janssen, N., Dijkhuizen, T. & van Ravenswaaij-Arts, C. M. A., 19-mrt.-2023, In: Orphanet journal of rare diseases. 18, 1, 19 blz., 59.
Onderzoeksoutput › Academic › peer review

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1 Citaat (Scopus)

2 Downloads (Pure)
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
Breet, H., Vos, Y. J., Dijkhuizen, T., Voorbij-Vierstra, C. L., Bolling, M. C. & van den Akker, P. C., mrt.-2023, In: American Journal of Medical Genetics, Part A. blz. 896-898 3 blz.
Onderzoeksoutput: Letter › Academic › peer review

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4 Downloads (Pure)
TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility
Engwerda, A., Leenders, E. K. S. M., Frentz, B., Terhal, P. A., Lohner, K., De Vries, B. B. A., Dijkhuizen, T., Vos, Y. J., Rinne, T., Van den Berg, M. P., Roofthooft, M. T. R., Deelen, P., van Ravenswaaij-Arts, C. M. A. & Kerstjens-Frederikse, W. S., apr.-2022, In: European Journal of Human Genetics. 30, SUPPL 1, blz. 366-366 1 blz.
Onderzoeksoutput › Academic
Unravelling terminal 6p deletions with the help of social media
Rraku, E., Engwerda, A., Geurink, J., Monsma, L., Bouman, P., Swertz, M. A., Dijkhuizen, T. & van Ravenswaaij-Arts, C. M. A., apr.-2022, In: European Journal of Human Genetics. 30, SUPPL 1, blz. 367-367 1 blz.
Onderzoeksoutput › Academic
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
Engwerda, A., Leenders, E. K. S. M., Frentz, B., Terhal, P. A., Lohner, K., de Vries, B. B. A., Dijkhuizen, T., Vos, Y. J., Rinne, T., van den Berg, M. P., Roofthooft, M. T. R., Deelen, P., Van Ravenswaaij-Arts, C. M. A. & Kerstjens-Frederikse, W. S., nov.-2021, In: European Journal of Human Genetics. 29, blz. 1669-1676 8 blz.
Onderzoeksoutput › Academic › peer review

Open Access
Bestand

12 Citaten (Scopus)

94 Downloads (Pure)

Trijnie Dijkhuizen

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

Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility

Unravelling terminal 6p deletions with the help of social media

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

Trijnie Dijkhuizen

Netwerk

Onderzoeksoutput

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

Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility

Unravelling terminal 6p deletions with the help of social media

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility