Iben Bache
Gæsteforsker
Medical Genetics Program
Blegdamsvej 3
2200 København N.
ORCID: 0000-0001-7562-8546
1 - 1 ud af 1Pr. side: 10
- 2005
- Udgivet
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, I: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. Vol. 135A, s. 339-341Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
ID: 33969897
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1887
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Udgivet -
320
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NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning › fagfællebedømt
Udgivet -
245
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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
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Udgivet