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The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society|March 8, 2005
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosisJoris R Vermeesch, Cindy Melotte, Guy Froyen, et al.
Nature Medicine|April 28, 2009
Chromosome instability is common in human cleavage-stage embryosEvelyne Vanneste, Thierry Voet, Cédric Le Caignec, et al.
American Journal of Medical Genetics. Part A|July 12, 2011
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pterPiotr S Iwanowski, Barbara Panasiuk, Griet Van Buggenhout, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genesBlanka Stibůrková, Jacek Majewski, Katerina Hodanová, et al.
BMJ Case Reports|July 2, 2011
The C20orf133 gene is disrupted in a patient with Kabuki syndromeNicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
Journal of Medical Genetics|June 26, 2007
The C20orf133 gene is disrupted in a patient with Kabuki syndromeNicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
Genes, Chromosomes & Cancer|December 3, 2009
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutationsEllen Denayer, Koen Devriendt, Thomy de Ravel, et al.
Human Mutation|June 18, 2011
Mutations in NOTCH2 in families with Hajdu-Cheney syndromeJacek Majewski, Jeremy A Schwartzentruber, Aurore Caqueret, et al.
American Journal of Human Genetics|May 6, 2003
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transportJuha Kolehmainen, Graeme C M Black, Anne Saarinen, et al.
American Journal of Human Genetics|November 25, 2003
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationSarah A Shoichet, Kirsten Hoffmann, Corinna Menzel, et al.
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