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Title Author/Creator Date Full Text Reviewed
Add CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes Hackett, Anna; Tarpey, Patrick S.; Tolmie, John; Yates, John R. W.; Turner, Gillian... More 2010 — Reviewed
Add Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks Kerzendorfer, Claudia; Whibley, Annabel; Carpenter, Gillian; Outwin, Emily; Chiang, Shih-Chieh... More 2010 — Reviewed
Add SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome Gilfillan, Gregor D.; Selmer, Kaja K.; Sjøholm, Hans; Server, Andres; Samuelsson, Lena... More 2008 — Reviewed
Add Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation Froyen, Guy; Corbett, Mark; Chelly, Jamel; Sanlaville, Damien; van Bokhoven, Hans... More 2008 — Reviewed
Add A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation Tarpey, Patrick S.; Smith, Raffaella; Stephens, Phil; Blow, Matt; Greenman, Chris... More 2009 — Reviewed
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