Iben Bache

Guest researcher

ORCID: 0000-0001-7562-8546

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Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity
Harding, Christina Halgren, Bache, Iben, Bak, M., Myatt, M. W., Anderson, C. M., Brøndum-Nielsen, K. & Tommerup, Niels, Dec 2012, In: European Journal of Human Genetics. 20, 12, p. 1315-1319 5 p.
Research output: Contribution to journal › Journal article › Research › peer-review

ID: 33969897

1863 downloads
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
Published
317 downloads
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
Published
236 downloads
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
Published

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