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Hackett, Anna

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Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 112 85 0
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes 305 270 0
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation 450 387 0
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation 234 166 0
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation 211 193 0
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A 21 14 0
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Hackett, Anna

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