Rosalina Vervenne

20082018
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Research Output 2008 2018

Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element

Bouman, A., van Haelst, M. & van Spaendonk, R., 2018, In : Clinical Dysmorphology. 27, 2, p. 58-62

Research output: Contribution to journalArticleAcademicpeer-review

Altered PLP1 splicing causes hypomyelination of early myelinating structures

Kevelam, S. H., Taube, J. R., van Spaendonk, R. M. L., Bertini, E., Sperle, K., Tarnopolsky, M., Tonduti, D., Valente, E. M., Travaglini, L., Sistermans, E. A., Bernard, G., Catsman-Berrevoets, C. E., van Karnebeek, C. D. M., Ostergaard, J. R., Friederich, R. L., Elsaid, M. F., Schieving, J. H., Tarailo-Graovac, M., Orcesi, S., Steenweg, M. E. & 6 othersvan Berkel, C. G. M., Waisfisz, Q., Abbink, G. E. M., Knaap, M., Hobson, G. M. & Wolf, N. I., 2015, In : Annals of Clinical and Translational Neurology. 2, 6, p. 648-661

Research output: Contribution to journalArticleAcademicpeer-review

Interferon-alpha and the calcifying microangiopathy in Aicardi-Goutieres syndrome

Klok, M. D., Bakels, H. S., Postma, N. L., van Spaendonk, R. M. L., van der Knaap, M. S. & Bugiani, M., 2015, In : Annals of Clinical and Translational Neurology. 2, 7, p. 774-779

Research output: Contribution to journalArticleAcademicpeer-review

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Gutierrez, M., Thiffault, I., Guerrero, K., Martos-Moreno, G. A., Tran, L. T., Benko, W., Knaap, M., van Spaendonk, R. M. L., Wolf, N. I. & Bernard, G., 2015, In : Orphanet Journal of Rare Diseases. 10, 69.

Research output: Contribution to journalArticleAcademicpeer-review

POLR3A and POLR3B Mutations in Unclassified Hypomyelination

Cayami, F. K., La Piana, R., van Spaendonk, R. M. L., Nickel, M., Bley, A., Guerrero, K., Tran, L. T., Knaap, M., Bernard, G. & Wolf, N. I., 2015, In : Neuropediatrics. 46, 3, p. 221-227

Research output: Contribution to journalArticleAcademicpeer-review