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Browsing by Author Menten, B.
Showing results 1 to 8 of 8
| Full Text | Issue Date | Title | Author(s) | | 2011 | Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions. | Vergult, S.; Krgovic, D.; Loeys, B.L.; Lyonnet, S.; Lieden, A., et al |
| 2010 | Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. | Buysse, K.; Vergult, S.; Mussche, S.; Ceuterick-de Groote, C.; Speleman, F., et al |
| 2009 | The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height. | Buysse, K.; Reardon, W.; Mehta, L.; Costa, T.; Fagerstrom, C., et al |
| 2009 | Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. | Bon, B.W.M. van; Mefford, H.C.; Menten, B.; Koolen, D.A.; Sharp, A.J., et al |
| 2009 | Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. | Bijlsma, E.K.; Gijsbers, A.C.; Schuurs-Hoeijmakers, J.H.M.; Haeringen, A. van; Fransen van de Putte, D.E., et al |
| 2009 | Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. | Aa, N. van der; Rooms, L.; Weyer, G. van de; Ende, J.J. van den; Reyniers, E., et al |
| 2008 | Mapping of 5q35 chromosomal rearrangements within a genomically unstable region. | Buysse, K.; Crepel, A.; Menten, B.; Pattyn, F.; Antonacci, F., et al |
| 2008 | Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. | Mefford, H.C.; Sharp, A.J.; Baker, C.; Itsara, A.; Jiang, Z., et al |
Showing results 1 to 8 of 8
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