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Browsing by Author Turner, G.

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Showing results 1 to 13 of 13
Full TextIssue DateTitleAuthor(s)
2011Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared lociZhernakova, A.; Stahl, E.A.; Trynka, G.; Raychaudhuri, S.; Festen, E.A., et al
2009A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.Tarpey, P.S.; Smith, R.; Pleasance, E.; Whibley, A.; Edkins, S., et al
2008MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.Frints, S.G.; Lenzner, S.; Bauters, M.; Jensen, L.R.; 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
2007Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.Brouwer, A.P.M. de; Yntema, H.G.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A.R., et al
2007Genome sequencing and analysis of the versatile cell factory Aspergillus niger CBS 513.88Pel, H.J.; Winde, J.H. de; Archer, D.B.; Dyer, P.S.; Hofmann, G., et al
2007X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.Jensen, L.R.; Lenzner, S.; Moser, B.; Freude, K.; Tzschach, A., et al
2007Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.Kousoulidou, L.; Parkel, S.; Zilina, O.; Palta, P.; Puusepp, H., et al
2007Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.Froyen, G.; Bauters, M.; Boyle, J.; Esch, H. van; Govaerts, K., et al
2006Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.Tzschach, A.; Lenzner, S.; Moser, B.; Reinhardt, R.; Chelly, J., et al
2006Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.Lugtenberg, D.; Brouwer, A.P.M. de; Kleefstra, T.; Oudakker, A.R.; Frints, S.G., et al
2005Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.Jensen, L.R.; Amende, M.; Gurok, U.; Moser, B.; Gimmel, V., et al
2004The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.Turner, G.; Lower, K.M.; White, S.M.; Delatycki, M.B.; Lampe, A.K., et al
Showing results 1 to 13 of 13

 

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