Research output per year
Research output per year
Personal profile
Research interests
Rare Diseases, Dysmorphology, Genomic Medicine, Genetic Diagnostics of Rare Diseases and Syndromes with or without Intellectual Disability, Clinical Genetics, and Genetic Counselling.
External positions
Head of Department, Odense University Hospital
1. Jul 2022 → …
Head of Department, Odense University Hospital
1. Mar 2010 → 30. Jun 2022
Fingerprint
Dive into the research topics where Lilian Bomme Ousager is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing
Miceikaitė, I., Hao, Q., Brasch-Andersen, C., Fagerberg, C. R., Torring, P. M., Kristiansen, B. S., Ousager, L. B., Sperling, L., Ibsen, M. H., Löser, K. & Larsen, M. J., 1. May 2024, In: Obstetrical and Gynecological Survey. 79, 5, p. 261-263Research output: Contribution to journal › Comment/debate › Research › peer-review
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Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark
Gram, S. B., Jørgensen, A. S. F., Bygum, A., Brusgaard, K. & Ousager, L. B., May 2024, In: Clinical Genetics. 105, 5, p. 561-566Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile12 Downloads (Pure) -
Klinisk genetik
Ousager, L. B., Kibæk Nielsen, I. & Sunde, L., 30. May 2024, Medicinsk Kompendium. Hauge, E. M., Ainsworth , M. A. & Poulsen , S. D. (eds.). 20. ed. Munksgaard , Vol. 2. p. 1947-1957Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Education › peer-review
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Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant
Øzdemir, C. M., Nielsen, M. M., Liimatta, J., Voegel, C. D., Elzenaty, R. N., Wasehuus, V. S., Lind-Holst, M., Ornstrup, M. J., Gram, S. B., Ousager, L. B., Flück, C. E. & Gravholt, C. H., 1. Jul 2024, In: Endocrinology, Diabetes & Metabolism Case Reports. 2024, 3, 8 p., e230090.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile2 Downloads (Pure) -
Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk
Gram, S. B., Brusgaard, K., Bygum, A., Christensen, A. H. & Ousager, L. B., May 2024, In: Journal of Dermatology. 51, 5, p. e143-e144Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile32 Downloads (Pure)
Projects
- 1 Finished
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RHINOLOGY and VASCULAR MALFORMATIONS: Genotyping and Gene Expression Profiling in Hereditary Haemorrhagic Telangiectasia
Tørring, P. M. (PhD student), Brusgaard, K. (Co-supervisor), Ousager, L. B. (Co-supervisor), Tan, Q. (Co-supervisor) & Kjeldsen, A. D. (Supervisor)
01/06/2010 → 29/08/2014
Project: PhD Project
Press/Media
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Fagfolk frygter slingrekurs på vejen mod personlig medicin
04/08/2023
1 Media contribution
Press/Media: Press / Media
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Lillian Bomme Ousager er udnævnt til professor
07/09/2020
1 Media contribution
Press/Media: Press / Media
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Lillian Bomme Ousager er udnævnt til professor
07/09/2020
1 Media contribution
Press/Media: Press / Media
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Prizes
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Ingeborg og Leo Dannins Legat for Videnskabelig Forskning
Ousager, L. B. (Recipient), 23. Mar 1999
Prize: Prizes, scholarships, distinctions
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Poster prize for best poster at the Danish Cancer Society research symposia.
Ousager, L. B. (Recipient), 1997
Prize: Prizes, scholarships, distinctions
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