Research output per year
Research output per year
Fingerprint
Dive into the research topics where IRS - Lillebælt Hospital, Research Unit of Human Genetics (Vejle) is active. These topic labels come from the works of this organisation's researchers. Together they form a unique fingerprint.
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
Researchers
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Maria Rasmussen
- Department of Regional Health Research
- IRS - Lillebælt Hospital, Research Unit of Human Genetics (Vejle) - Clinical Associate Professor
Person: VIP
Research output
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MUC1-associated autosomal dominant tubulointerstitial kidney disease: prevalence in kidney failure of undetermined aetiology and clinical insights from Danish families
Granhøj, J., Lildballe, D. L., Pedersen, K. V., Tougaard, B. G., Sokol, M., Aagaard, M. M., Petersen, A. H., Kristensen, T., Djursby, M., Birn, H. & Rasmussen, M., Jan 2025, In: Clinical Kidney Journal. 18, 1, 11 p., sfae355.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile -
A de novo FBN1 missense variant associated with a severe phenotype of early onset Marfan syndrome
Markholt, S., Skaerbaek, J., Munk, K., Andersen, B. N., Lilballe, D. L., Blechingberg, J., Petersen, J. P., Bjerre, J. V., Gregersen, P. A. & Kyng, K. J., Dec 2024, In: Progress in Pediatric Cardiology. 75, 5 p., 101751.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile5 Downloads (Pure) -
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma
Gram, S. B., Brusgaard, K., Lei, U., Sommerlund, M., Vinding, G. R., Sleire, S. O. K., Christensen, A. H., Fast, S. P., Bach, R., Bygum, A. & Ousager, L. B., 4. Dec 2024, (E-pub ahead of print) In: JAMA Dermatology.Research output: Contribution to journal › Journal article › Research › peer-review
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Correction: Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men (Basic and Clinical Andrology, (2023), 33, 1, (37), 10.1186/s12610-023-00212-z)
Fedder, J., Fagerberg, C., Jørgensen, M. W., Gravholt, C. H., Berglund, A., Knudsen, U. B. & Skakkebæk, A., 5. Jan 2024, In: Basic and Clinical Andrology. 34, 1 p., 34.Research output: Contribution to journal › Comment/debate › Research › peer-review
Open AccessFile11 Downloads (Pure) -
DNA methylation profile of inflammatory breast cancer and its impact on prognosis and outcome
Faldoni, F. L. C., Bizinelli, D., Souza, C. P., Santana, I. V. V., Marques, M. M. C., Rainho, C. A., Marchi, F. A. & Rogatto, S. R., 6. Jul 2024, In: Clinical Epigenetics. 16, 15 p., 89.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile16 Downloads (Pure)
Activities
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Genetiske årsager til hypertensivt nyresvigt: Helgenomsekventering og funktionel karakterisering af genvarianter
Granhøj, J. (Guest lecturer)
13. Jun 2022Activity: Talks and presentations › Talks and presentations in private or public companies
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MO036: Detection of copy number variations by single-nucleotide-polymorphism array in patients with end-stage renal disease of unknown etiology
Granhøj, J. (Author)
19. May 2022 → 22. May 2022Activity: Talks and presentations › Conference presentations
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An in vivo assessment of the relation between critical shortening of telomeres and osteoarthritis in humans
Harbo, M. (Lecturer)
14. Sept 2010 → 19. Sept 2010Activity: Talks and presentations › Talks and presentations in private or public companies
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The prognostic value of genetic variations in the vascular endothelial growth factor A gene in colorectal cancer
Hansen, T. F. (Speaker)
28. Mar 2010 → 30. Mar 2010Activity: Talks and presentations › Talks and presentations in private or public companies
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The prognostic value of genetic variations in the vascular endothelial growth factor A gene in colorectal cancer
Kølvraa, S. (Speaker)
28. Mar 2010 → 30. Mar 2010Activity: Talks and presentations › Talks and presentations in private or public companies
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Monogenic Causes of Hypertensive Nephropathy in Patients with End-stage Renal Disease and Functional Characterization of Genetic Tubulopathies
Granhøj, J. (PhD student), Rasmussen, M. (Supervisor), Jørgensen, M. M. A. (Co-supervisor), Svenningsen, P. (Co-supervisor) & Birn, H. (Co-supervisor)
01/11/2021 → 31/10/2024
Project: PhD Project
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Critical literature review of genetic variants in reported cases of Liddle syndrome
Granhøj, J. (Project participant), Rasmussen, M. (Project participant), Svenningsen, P. (Project participant) & Nøhr, T. K. (Project participant)
06/03/2022 → …
Project: Research
File
Press/Media
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PRM / Genetikprofessor ved Sygehus Lillebælt
23/08/2024
1 Media contribution
Press/Media: Press / Media
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SDU og Sygehus Lillebælt udnævner ny professor i genetik
23/08/2024
1 Media contribution
Press/Media: Press / Media
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