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Tarpey, Patrick S.

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Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation 101 97 0
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes 211 202 0
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation 153 109 0
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation 297 292 0
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation 162 159 0
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Tarpey, Patrick S.

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Tarpey, Patrick S.

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