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Human Mutation|March 18, 2011
Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryosThierry Voet, Evelyne Vanneste, Niels Van der Aa, et al.European Journal of Medical Genetics|September 24, 2005
Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotypeJoris Robert Vermeesch, Cindy Melotte, Ivo Salden, et al.American Journal of Medical Genetics|September 5, 2002
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathyJohan L K Van Hove, Rita Van Damme-Lombaerts, Stephanie Grünewald, et al.BMC Medical Genetics|September 24, 2009
Pathogenesis of vestibular schwannoma in ring chromosome 22Ellen Denayer, Hilde Brems, Paul de Cock, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 16, 2011
Observations on intelligence and behavior in 15 patients with Legius syndromeEllen Denayer, Mie-Jef Descheemaeker, Douglas R Stewart, et al.Neurogenetics|October 2, 2009
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardationGinevra Zanni, Hilde van Esch, Anissa Bensalem, et al.Nucleic Acids Research|May 16, 2006
Single-cell chromosomal imbalances detection by array CGHCedric Le Caignec, Claudia Spits, Karen Sermon, et al.Journal of Medical Genetics|November 12, 2010
2q31.1 microdeletion syndrome: redefining the associated clinical phenotypeBoyan Dimitrov, Irina Balikova, Thomy de Ravel, et al.American Journal of Human Genetics|October 23, 2004
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationJiong Tao, Hilde Van Esch, M Hagedorn-Greiwe, et al.Kidney International|September 17, 2005
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41Katerina Hodanová, Jacek Majewski, Martina Kublová, et al.Pageof 17