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Browsing by Author Froyen, G.
Showing results 1 to 9 of 9
| Full Text | Issue Date | Title | Author(s) | | 2010 | Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. | Lugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M.; Whibley, A.C.; Oudakker, A.R., et al |
| 2009 | Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. | Walle, J. van de; Esch, H. van; Govaerts, K.; Verbeeck, J.; Zweier, C., et al |
| 2009 | A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders. | Bashiardes, S.; Kousoulidou, L.; Bokhoven, J.H.L.M. van; Ropers, H.H.; Chelly, J., et al |
| 2008 | Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. | Froyen, G.; Corbett, M.; Walle, J. van de; Jarvela, I.; Lawrence, O., et al |
| 2008 | MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. | Frints, S.G.; Lenzner, S.; Bauters, M.; Jensen, L.R.; Esch, H. van, et al |
| 2008 | High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation. | Jehee, F.S.; Krepischi-Santos, A.C.; Rocha, K.M.; Cavalcanti, D.P.; Kim, C.A., et al |
| 2007 | Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. | Brouwer, A.P.M. de; Yntema, H.G.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A.R., et al |
| 2007 | Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. | Froyen, G.; Bauters, M.; Boyle, J.; Esch, H. van; Govaerts, K., et al |
| 2007 | Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. | Kousoulidou, L.; Parkel, S.; Zilina, O.; Palta, P.; Puusepp, H., et al |
Showing results 1 to 9 of 9
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