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Tarpey, Patrick S.

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CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes 303 269 0
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation 137 128 0
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation 445 383 0
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation 232 165 0
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation 210 193 0
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Tarpey, Patrick S.

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Tarpey, Patrick S.

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