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Browsing by Author Laumonnier, F.

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Full TextIssue DateTitleAuthor(s)
2011Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disabilityPagan, C.; Botros, H.G.; Poirier, K.; Dumaine, A.; Jamain, S., et al
2010Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.Laumonnier, F.; Shoubridge, C.; Antar, C.; Nguyen, L.S.; Esch, H. van, et al
2008Submicroscopic 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
2005Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.Laumonnier, F.; Holbert, S.; Ronce, N.; Faravelli, F.; Lenzner, S., et al
2004X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.Laumonnier, F.; Bonnet-Brilhault, F.; Gomot, M.; Blanc, R.; David, A., et al
Showing results 1 to 5 of 5

 

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