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Browsing by Author Lenzner, S.

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Showing results 1 to 7 of 7
Full TextIssue DateTitleAuthor(s)
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
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
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
2006Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.Tzschach, A.; Lenzner, S.; Moser, B.; Reinhardt, R.; Chelly, J., 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
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
2004Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.Freude, K.; Hoffmann, K.; Jensen, L.R.; Delatycki, M.B.; Portes, V. des, et al
Showing results 1 to 7 of 7

 

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