The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

Autor: Huet, R.A.C. van, Pierrache, L.H., Meester-Smoor, M.A., Klaver, C.C., Born, L.I. van den, Hoyng, C.B., Wijs, I.J. de, Collin, R.W.J., Hoefsloot, L.H., Klevering, B.J.

Publikováno v: Molecular Vision, 21, 461-76
Molecular Vision, 21, pp. 461-76

Contains fulltext : 154175.pdf (Publisher’s version ) (Open Access) PURPOSE: To determine the efficacy of multiple versions of a commercially available arrayed primer extension (APEX) microarray chip for autosomal recessive retinitis pigmentosa (ar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5c2dda22650ed01e1e21a8906a2d42a5
https://hdl.handle.net/2066/154175

A new proteolipid lipoprotein mutation in Pelizaeus-Merzbacher disease

Autor: Verhagen, W.I.M., Huygen, P.L.M., Smeets, H.J.M., Renier, W.O., Wijs, I.J. de

Publikováno v: The Journal of Neuroscience, 147, 215-216
Journal of the Neurological Sciences, 147, 215-216
The Journal of Neuroscience, 147, pp. 215-216
Journal of the Neurological Sciences, 147, 2, pp. 215-216

Contains fulltext : 25672___.PDF (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2bc7eb4f4cdfb984535b761d2dee0ecd
http://hdl.handle.net/2066/25694