Jiddeke van de Kamp

DRS.

20082019

Research output per year

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Research Output

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients

Vals, M-A., Ashikov, A., Ilves, P., Loorits, D., Zeng, Q., Barone, R., Huijben, K., Sykut-Cegielska, J., Diogo, L., Elias, A. F., Greenwood, R. S., Grunewald, S., van Hasselt, P. M., van de Kamp, J. M., Mancini, G., Okninska, A., Pajusalu, S., Rudd, P. M., Rustad, C. F., Salvarinova, R. & 5 others, de Vries, B. B. A., Wolf, N. I., Lefeber, D. J., Õunap, K. & EPGEN Study, 1 May 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 553-564 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment

Smits, J. J., Oostrik, J., Beynon, A. J., Kant, S. G., de Koning Gans, P. A. M., Rotteveel, L. J. C., Klein Wassink-Ruiter, J. S., Free, R. H., Maas, S. M., van de Kamp, J., Merkus, P., Koole, W., Feenstra, I., Admiraal, R. J. C., Lanting, C. P., Schraders, M., Yntema, H. G., Pennings, R. J. E., Kremer, H. & DOOFNL Consortium, 11 Jan 2019, In : Human Genetics. 138, 1, p. 61-72 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Diagnostic yield of NGS analysis of a panel of Osteogenesis imperfecta-related genes in 550 patients with Osteogenesis imperfecta, (early-onset) nonsyndromic osteoporosis and related disorders

Maugeri, A., Voorhoeve, E., Appelman-Dijkstra, N. M., van Dijk, A. T. H., van Dijk, F. S., Eekhoff, E. M. W., Elting, M. W., van Haeringen, A., Harsevoort, A., Isrie, M., Janus, G. J. M., de Jongh, R. T., van de Kamp, J. M., van Maarle, M. C., Marcelis, C. L. M., Simon, M. E. H., Simsek, S., Stumpel, C. T. R. M., Terhal, P. A., Veenstra-Knol, H. E. & 6 others, Zillikens, M. C., Meijers-Heijboer, E. J., Sistermans, E. A., Weiss, M. M., Pals, G. & Micha, D., Oct 2019, In : European Journal of Human Genetics. 27, p. 1293-1293

Research output: Contribution to journalMeeting AbstractAcademic

The etiological evaluation of sensorineural hearing loss in children

van Beeck Calkoen, E. A., Engel, M. S. D., van de Kamp, J. M., Yntema, H. G., Goverts, S. T., Mulder, M. F., Merkus, P. & Hensen, E. F., 1 Aug 2019, In : European Journal of Pediatrics. 178, 8, p. 1195-1205 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Evaluation of the outcome of CT and MR imaging in pediatric patients with bilateral sensorineural hearing loss

van Beeck Calkoen, E. A., Merkus, P., Goverts, S. T., van de Kamp, J. M., Mulder, M. F., Sanchez Aliaga, E. & Hensen, E. F., 1 May 2018, In : International Journal of Pediatric Otorhinolaryngology. 108, p. 180-185 6 p.

Research output: Contribution to journalArticleAcademicpeer-review