 |
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
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2010 |
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Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation |
Rujirabanjerd, Sinitdhorn; Nelson, John; Futreal, P. Andrew; Stratton, Michael R.; Gecz, Jozef... More
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2010 |
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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
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2010 |
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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
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2008 |
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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
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2008 |
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Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans |
Wu, Ye; Arai, Amy C.; Boyle, Jackie; Tarpey, Patrick; Raymond, F. Lucy... More
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2007 |
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