Iben Bache
Guest researcher
Medical Genetics Program
Blegdamsvej 3
2200 København N.
ORCID: 0000-0001-7562-8546
Most downloads
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1894 downloadsPublished
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
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320 downloadsPublished
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
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246 downloadsPublished
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
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50 downloadsPublished
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
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32 downloadsPublished
The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood
Research output: Contribution to journal › Journal article › Research › peer-review
ID: 33969897
Most downloads
-
1894
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 -
320
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 -
246
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