20082019
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Research Output 2008 2019

  • 30 Article
  • 1 Comment/Letter to the editor
  • 1 Review article
  • 1 Research VU University Amsterdam, graduation VU University Amsterdam

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

EPGEN Study, 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 553-564

Research output: Contribution to journalArticleAcademicpeer-review

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

DOOFNL Consortium, 11 Jan 2019, In : Human Genetics. 138, 1, p. 61-72 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

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., 2019, In : European Journal of Pediatrics.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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