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Hackett, Anna

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CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes 206 197 0
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation 151 107 0
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation 295 290 0
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation 162 159 0
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 40 38 0
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Hackett, Anna

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Hackett, Anna

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