Iben Bache
Guest researcher
Medical Genetics Program
Blegdamsvej 3
2200 København N.
ORCID: 0000-0001-7562-8546
1 - 2 out of 2Page size: 10
- 2014
- Published
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
Thevenon, J., Callier, P., Poquet, H., Bache, I., Menten, B., Malan, V., Cavaliere, M. L., Girod, J-P., Thauvin-Robinet, C., El Chehadeh, S., Pinoit, J-M., Huet, F., Verges, B., Petit, J-M., Mosca-Boidron, A-L., Marle, N., Mugneret, F., Masurel-Paulet, A., Novelli, A., Tümer, Z. & 3 others, , Jan 2014, In: Journal of Medical Genetics. 51, 1, p. 21-7 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Saturation of the Human Genome with Chromosomal Breakpoints
Rasmussen, Malene Bøgehus, Schlechter, C. L., Mehrjouy, M. M., Bache, Iben, Lind-Thomsen, A., Silahtaroglu, Asli, Kjærgaard, S., Brondum-Nielsen, K., Jensen, P. K. A., Fagerberg, C., Krogh, L. N., Fonseca, A. C. D., Morgante, A. M. V., Abe, K. T., Harding, Christina Halgren, Bak, M., Jacky, P. & Tommerup, Niels, 2014, In: Cytogenetic and Genome Research. 142, 3, 2 p., 2.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
ID: 33969897
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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