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- 2008
- DAX1 locus duplications as a cause of isolated partial or complete 46,XY gonadal dysgenesis (
- Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms (
- Array-CGH identifies cyclin D1 and UBCH10 amplicons in anaplastic thyroid carcinoma. (
- 2007
- Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. (
- Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients (