Iben Bache
Guest researcher
Medical Genetics Program
Blegdamsvej 3
2200 København N.
ORCID: 0000-0001-7562-8546
1 - 1 out of 1Page size: 10
- 2005
- Published
The eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1. Mb of chromosome 21 and osteoporosis in Down syndrome
Tümer, Asuman Zeynep, Henriksen, A. M., Bache, Iben, Larsen, Lars Allan, Brixen, K., Illum, N., Rasmussen, K. & Tommerup, Niels, 2005, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. Vol. 135A, p. 339-341Research output: Contribution to journal › Journal article › Research › peer-review
ID: 33969897
Most downloads
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1894
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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