Mariet Elting

DR.

20092019
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Research Output 2009 2019

Fatal neonatal hypertrophic cardiomyopathy caused by compound heterozygous truncating MYBPC3 mutation

Alsters, S., Wong, L., Peferoen, L., Niessen, H. W. M., Bikker, H., Elting, M. W. & Houweling, A. C., 2019, In : Netherlands Heart Journal. 27, 5, p. 282-283

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: Update on genetic testing in the NGS era

Stuurman, K. E., Joosten, M., van der Burgt, I., Elting, M., Yntema, H. G., Meijers-Heijboer, H. & Rinne, T., 2019, In : Journal of Medical Genetics. 56, 10, p. 654-661

Research output: Contribution to journalArticleAcademicpeer-review

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