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Browsing by Author Menten, B.

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Showing results 1 to 8 of 8
Full TextIssue DateTitleAuthor(s)
2011Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.Vergult, S.; Krgovic, D.; Loeys, B.L.; Lyonnet, S.; Lieden, A., et al
2010Giant 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
2009The 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
2009Further 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
2009Extending 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
2009Fourteen 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
2008Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.Buysse, K.; Crepel, A.; Menten, B.; Pattyn, F.; Antonacci, F., et al
2008Recurrent 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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