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High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Douben HCW, Nellist M, van Unen L, Elfferich P, Kasteleijn E, Hoogeveen-Westerveld M, Louwen J, van Veghel-Plandsoen M, de Valk W, Saris JJ, Hendriks F, Korpershoek E, Hoefsloot LH, van Vliet M, van Bever Y, van de Laar I, Aten E, Lachmeijer AMA, Taal W, van den Bersselaar L, Schuurmans J, Oostenbrink R, van Minkelen R, van Ierland Y, van Ham TJ. Douben HCW, et al. Among authors: taal w. Hum Mutat. 2022 Dec;43(12):2130-2140. doi: 10.1002/humu.24487. Epub 2022 Nov 8. Hum Mutat. 2022. PMID: 36251260 Free PMC article.
Two exceptional phenomena in an anaplastic oligo-astrocytoma.
Hanse MC, Franssen JH, Sleeboom HP, Hoffmann CF, Taal W. Hanse MC, et al. Among authors: taal w. J Neurooncol. 2006 Jun;78(2):197. doi: 10.1007/s11060-005-9088-7. Epub 2006 Mar 31. J Neurooncol. 2006. PMID: 16575535 No abstract available.
67 results