Taco Kuijpers

PROF.DR.

1989 …2019
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Research Output 1989 2019

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

Volpi, S., Cicalese, M. P., Tuijnenburg, P., Tool, A. T. J., Cuadrado, E., Abu-Halaweh, M., Ahanchian, H., Alzyoud, R., Akdemir, Z. C., Barzaghi, F., Blank, A., Boisson, B., Bottino, C., Brigida, I., Caorsi, R., Casanova, J-L., Chiesa, S., Chinn, I. K., Dückers, G., Enders, A. & 32 othersErichsen, H. C., Forbes, L. R., Gambin, T., Gattorno, M., Karimiani, E. G., Giliani, S., Gold, M. S., Jacobsen, E-M., Jansen, M. H., King, J. R., Laxer, R. M., Lupski, J. R., Mace, E., Marcenaro, S., Maroofian, R., Meijer, A. B., Niehues, T., Notarangelo, L. D., Orange, J., Pannicke, U., Pearson, C., Picco, P., Quinn, P. J., Schulz, A., Seeborg, F., Stray-Pedersen, A., Tawamie, H., van Leeuwen, E. M. M., Aiuti, A., Yeung, R., Schwarz, K. & Kuijpers, T. W., 2019, In : Journal of Allergy and Clinical Immunology. 143, 6, p. 2296-2299

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Deciphering Developmental Disorders Study, NIHR BioResource, UK10K Consortium, Gorman, K. M., Meyer, E., Grozeva, D., Spinelli, E., McTague, A., Sanchis-Juan, A., Carss, K. J., Bryant, E., Reich, A., Schneider, A. L., Pressler, R. M., Simpson, M. A., Debelle, G. D., Wassmer, E., Morton, J., Sieciechowicz, D., Paciorkowski, A. R. & 5 othersCross, J. H., Poduri, A., Mefford, H. C., Haack, T. B. & McCullagh, G., 2019, In : American journal of human genetics. 104, 5, p. 948-956

Research output: Contribution to journalArticleAcademicpeer-review

Consider the wrist: a retrospective study on pediatric connective tissue disease with MRI

Nusman, C. M., van den Berg, J. M., Nassar-Sheikh Rashid, A., Ntailiani, K., Karantanas, A., Kuijpers, T. W., Maas, M. & Schonenberg-Meinema, D., 2019, In : Rheumatology International.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Coronary artery assessment in Kawasaki disease with dual-source CT angiography to uncover vascular pathology

van Stijn–Bringas Dimitriades, D., Planken, R. N., Groenink, M., Streekstra, G. J., Kuijpers, T. W. & Kuipers, I. M., 2019, In : European Radiology.

Research output: Contribution to journalArticleAcademicpeer-review

Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells

Karampini, E., Schillemans, M., Hofman, M., van Alphen, F., de Boer, M., Kuijpers, T. W., van den Biggelaar, M., Voorberg, J. & Bierings, R., 2019, In : Haematologica. 104, 10, p. 2091-2099

Research output: Contribution to journalArticleAcademicpeer-review

Open Access