Christa de Geus

https://orcid.org/0000-0002-7996-056X

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6 Article
2 Meeting Abstract
1 Abstract
1 Review article

GRIN2A-related disorders: genotype and functional consequence predict phenotype
GRIN2A Study Grp, Strehlow, V., Heyne, H. O., Vlaskamp, D. R. M., Marwick, K. F. M., Rudolf, G., De Bellescize, J., Biskup, S., Brilstra, E. H., Brouwer, O. F., Callenbach, P. M. C., Hentschel, J., Hirsch, E., Kind, P. C., Mignot, C., Platzer, K., Rump, P., Skehel, P. A., Wyllie, D. J. A., Hardingham, G. E. & 3 anderen, van Ravenswaaij-Arts, C. M. A., Lesca, G. & Lemke, J. R., jan-2019, In: Brain. 142, 1, blz. 80-92 13 blz.
Onderzoeksoutput › Academic › peer review

Open Access
Bestand

44 Citaten (Scopus)

226 Downloads (Pure)
Neuroradiologic abnormalities in CHARGE syndrome and guidelines for cranial imaging
de Geus, C. M., Free, R. H., Verbist, B. M., Meiners, L. C. & van Ravenswaaij-Arts, C. M. A., jul-2019, In: European Journal of Human Genetics. 27, blz. 348-349 2 blz.
Onderzoeksoutput › Academic
Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study
de Geus, C. M., Bergman, J. E. H., van Ravenswaaij-Arts, C. M. A. & Meiners, L. C., okt-2018, In: American Journal of Neuroradiology. 39, 10, blz. 1938-1942 5 blz.
Onderzoeksoutput › Academic › peer review

Open Access
Bestand

6 Citaten (Scopus)

257 Downloads (Pure)
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype
Wade, E. M., Jenkins, Z. A., Daniel, P. B., Morgan, T., Addor, M. C., Ades, L. C., Bertola, D., Bohring, A., Carter, E., Cho, T-J., de Geus, C. M., Duba, H-C., Fletcher, E., Hadzsiev, K., Hennekam, R. C. M., Kim, C. A., Krakow, D., Morava, E., Neuhann, T., Sillence, D. & 6 anderen, Superti-Furga, A., Veenstra-Knol, H. E., Wieczorek, D., Wilson, L. C., Markie, D. M. & Robertson, S. P., jul-2017, In: American Journal of Medical Genetics. Part A. 173, 7, blz. 1739-1746 8 blz.
Onderzoeksoutput › Academic › peer review

10 Citaten (Scopus)
Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region
Donovan, A. P. A., Yu, T., Ellegood, J., Riegman, K. L. H., de Geus, C., van Ravenswaaij-Arts, C., Fernandes, C., Lerch, J. P. & Basson, M. A., 4-okt-2017, In: Frontiers in neuroanatomy. 11, 9 blz., 86.
Onderzoeksoutput › Academic › peer review

Open Access
Bestand

2 Citaten (Scopus)

190 Downloads (Pure)

GRIN2A-related disorders: genotype and functional consequence predict phenotype

Neuroradiologic abnormalities in CHARGE syndrome and guidelines for cranial imaging

Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region