Mariet Elting

DR.

20092019
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Research Output 2009 2019

Open Access

Abnormal eyeblink conditioning is an early marker of cerebellar dysfunction in preclinical SCA3 mutation carriers

van Gaalen, J., Maas, R. P. P. W. M., Ippel, E. F., Elting, M. W., van Spaendonck-Zwarts, K. Y., Vermeer, S., Verschuuren-Bemelmans, C., Timmann, D. & van de Warrenburg, B. P., 2018, In : Experimental Brain Research.

Research output: Contribution to journalArticleAcademicpeer-review

A common pathomechanism in GMAP-210- and LBR-related diseases

Wehrle, A., Witkos, T. M., Schneider, J. C., Hoppmann, A., Behringer, S., Köttgen, A., Elting, M., Spranger, J. R., Lowe, M. & Lausch, E., 2018, In : JCI Insight. 3, 23

Research output: Contribution to journalArticleAcademicpeer-review

Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy

Wesdorp, M., Schreur, V., Beynon, A. J., Oostrik, J., van de Kamp, J. M., Elting, M. W., van den Boogaard, M. J. H., Feenstra, I., Admiraal, R. J. C., Kunst, H. P. M., Hoyng, C. B., Kremer, H., Yntema, H. G., Pennings, R. J. E. & Schraders, M., 2018, In : Clinical Genetics. 94, 2, p. 221-231

Research output: Contribution to journalArticleAcademicpeer-review

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

The DDD Study, 2018, In : Genetics in Medicine.

Research output: Contribution to journalArticleAcademicpeer-review