Iben Bache

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Most downloads

1. 1859 downloads

   Published

   A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

   Research output: Contribution to journal › Journal article › Research › peer-review

2. 314 downloads

   Published

   NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers

   Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

3. 232 downloads

   Published

   Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

   Research output: Contribution to journal › Journal article › Research › peer-review

4. 43 downloads

   Published

   A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome

   Research output: Contribution to journal › Letter › Research › peer-review

5. 29 downloads

   Published

   The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood

   Research output: Contribution to journal › Journal article › Research › peer-review