Persistent URL of this record https://hdl.handle.net/1887/3563778
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High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing
- All authors
- Douben, H.C.W.; Nellist, M.; Unen, L. van; Elfferich, P.; Kasteleijn, E.; Hoogeveen-Westerveld, M.; Louwen, J.; Veghel-Plandsoen, M. van; Valk, W. de; Saris, J.J.; Hendriks, F.; Korpershoek, E.; Hoefsloot, L.H.; Vliet, M. van; Bever, Y. van; Laar, I. van de; Aten, E.; Lachmeijer, A.M.A.; Taal, W.; Bersselaar, L. van den; Schuurmans, J.; Oostenbrink, R.; Minkelen, R. van; Ierland, Y. van; Ham, T.J. van
- Date
- 2022-11-08
- Volume
- 43
- Issue
- 12
- Pages
- 2130 - 2140