Iben Bache
Guest researcher
Medical Genetics Program
Blegdamsvej 3
2200 København N.
ORCID: 0000-0001-7562-8546
Keywords
- Faculty of Health and Medical Sciences - chromosomal abnormalities, genetic susceptibility, cytogenetics, clinical genetics
ID: 33969897
Most downloads
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1859
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 -
314
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 -
232
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