Bart Appelhof

Research output

Research output per year 2015 2015 2017 2021 2021

• 3 Article

Research output per year

Research output per year

Search results

• 2021

  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 Access
  14 Citations (Scopus)
• 2017

  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. 207-212

  Research output: Contribution to journal › Article › Academic › peer-review
  29 Citations (Scopus)
• 2015

  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. 454526

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