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Browsing by Author Swinkels, M.E.
Showing results 1 to 4 of 4
| Full Text | Issue Date | Title | Author(s) | | 2012 | Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome | Schuurs-Hoeijmakers, J.H.M.; Oh, E.C.; Peart-Vissers, L.E.L.M.; Swinkels, M.E.; Gilissen, C., et al |
| 2012 | Dominant missense mutations in ABCC9 cause Cantu syndrome. | Harakalova, M.; Harssel, J.J. van; Terhal, P.A.; Lieshout, S. van; Duran, K., et al |
| 2009 | Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. | Callewaert, B.L.; Loeys, B.L.; Ficcadenti, A.; Vermeer, S.; Landgren, M., et al |
| 2008 | Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. | Swinkels, M.E.; Simons, A.; Smeets, D.F.C.M.; Vissers, L.E.L.M.; Veltman, J.A., et al |
Showing results 1 to 4 of 4
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