Patrick Rump

Search results

• 2021

  Development of symptomatic Familial Mediterranean Fever (FMF) after kidney transplantation diagnosed through sigmoid colon biopsy: a case report

  Tiems, J., Rump, P., Bakker, S. & Kats-Ugurlu, G., Aug-2021, In: Virchows Archiv. 479, p. S214-S215 2 p.

  Research output: Contribution to journal › Meeting Abstract › Academic
• 2020

  Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

  Dingemans, A. J. M., Stremmelaar, D. E., Van der Donk, R., Vissers, L. E. L. M., Koolen, D. A., Rump, P., Hehir-Kwa, J. Y. & De Vries, B. B. A., Dec-2020, In: European Journal of Human Genetics. 28, SUPPL 1, p. 597-597 1 p.

  Research output: Contribution to journal › Meeting Abstract › Academic
• 2019

  A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis

  Jean-Marcais, N., Olson, H. E., Yang, E., Heron, D., Tatton-Brown, K., van der Zwaag, P. A., Bijlsma, E. K., Krock, B. L., Backer, E., Kamsteeg, E., Sinnema, M., Reijnders, M. R. F., Bearden, D., Lunsing, R. J., Burglen, L., Lesca, G., Smith, L. A., Sheidley, B., Pearl, P. L., El Achkar, C. M. & 24 others, Poduri, A., Skraban, C. M., Nesbitt, A. I., van de Putte, D. E. F., Ruivenkamp, C. A. L., Rump, P., Sabatier, I., Sweetser, D. A., Waxler, J. L., Tarpinian, J., Wierenga, K. J., Donadieu, J., Narayanan, V., Ramsey, K. M., Nava, C., Lelieveld, S. H., Schuurs-Hoeijmakers, J., Brunner, H. G., Keren, B., Mau-Them, F. T., Thevenon, J., Faivre, L., Thomas, G. & Thauvin-Robinet, C., Jul-2019, In: European Journal of Human Genetics. 27, p. 853-854 2 p.

  Research output: Contribution to journal › Meeting Abstract › Academic
• 2017

  Increased Endoplasmic Reticulum Stress in patients with Congenital Liver Fibrosis caused by germline mutations in a Protein Disulfide Isomerase

  Chia, P. H., Kariminejad, A., Rump, P. & Reversade, B., Jul-2017, In: Mechanisms of development. 145, p. S27-S27 1 p.

  Research output: Contribution to journal › Meeting Abstract › Academic
• 2016

  Variable phenotypes in individuals with grin2a sequence variants or deletions

  Vlaskamp, D. R. M., Callenbach, P. M. C., Rump, P., Van Pinxteren-Nagler, E., Willemsen, M. H., Gunning, B., de Geus, C., Veenstra, K. H. E., Lunsing, R. J., Dijkhuizen, T., Vos, Y. J., Brouwer, O. F. & Van Ravenswaaij-Arts, C. M. A., 1-Dec-2016, In: Epilepsia. 57, p. 126 1 p.

  Research output: Contribution to journal › Meeting Abstract › Academic