Projects per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Projects
- 1 Active
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Baas F.: Genome analysis / Neurogenetics
Baas, F., ten Asbroek, A., Fluiter, K., van Ruissen, F., Weterman, M., Jakobs, M., Kenter, S., Zwart, R., Appelhof, B., Bahia El Idrissi, N., Both, J., van Dijk, T., Hakonen, J., van der Harg, J., Michailidou, I. & van Paassen, B.
1/02/2007 → …
Project: Research
Research output
- 3 Article
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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
Appelhof, B., Wagner, M., Hoefele, J., Heinze, A., Roser, T., Koch-Hogrebe, M., Roosendaal, S. D., Dehghani, M., Mehrjardi, M. Y. V., Torti, E., Houlden, H., Maroofian, R., Rajabi, F., Sticht, H., Baas, F., Wieczorek, D. & Jamra, R. A., Mar 2021, In: European journal of human genetics. 29, 3, p. 411-421 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access12 Citations (Scopus) -
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's
van Dijk, T., Barth, P., Reneman, L., Appelhof, B., Baas, F. & Poll-The, B. T., 2017, In: American Journal of Medical Genetics. Part A. 173A, 1, p. 207-212Research output: Contribution to journal › Article › Academic › peer-review
29 Citations (Scopus) -
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1
Jacobsen, J. C., Glamuzina, E., Taylor, J., Swan, B., Handisides, S., Wilson, C., Fietz, M., van Dijk, T., Appelhof, B., Hill, R., Marks, R., Love, D. R., Robertson, S. P., Snell, R. G. & Lehnert, K., 2015, In: Case reports in genetics. 2015, p. 454526Research output: Contribution to journal › Article › Academic › peer-review