Research output per year
Research output per year
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Dive into the research topics where Maria Rasmussen 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
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Research output
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Reverse Phenotypes of Patients with Genetically Confirmed Liddle Syndrome
Granhøj, J., Nøhr, T. K., Hinrichs, G. R., Rasmussen, M. & Svenningsen, P., May 2024, In: Clinical Journal of the American Society of Nephrology. 19, 5, p. 610-619Research output: Contribution to journal › Journal article › Research › peer-review
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The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years
Granhøj, J., Pedersen, K. V., Aagaard, M. M., Graakjaer, J. A., Lildballe, D. L., Birn, H. & Rasmussen, M., Jul 2024, In: Clinical Kidney Journal. 17, 7, 9 p., sfae166.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile16 Downloads (Pure) -
Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics
Erbs, E., Brasen, C. L., Lund, A. M. & Rasmussen, M., Mar 2023, In: European Journal of Medical Genetics. 66, 3, 104698.Research output: Contribution to journal › Journal article › Research › peer-review
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Hypophosphatasia as a plausible cause of vitamin B6 associated mouth pain: A case-report
Andersen, E. S., Rasmussen, M. & Brasen, C. L., 1. Apr 2023, In: Scandinavian Journal of Pain. 23, 2, p. 416-418Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile55 Downloads (Pure) -
National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark
Lildballe, D. L., Frederiksen, A. L., Schönewolf-Greulich, B., Brasch-Andersen, C., Lautrup, C. K., Karstensen, H. G., Pedersen, I. S., Sunde, L., Risom, L., Rasmussen, M., Bertelsen, M., Andersen, M. K., Rendtorff, N. D., Gregersen, P. A., Tørring, P. M., Hammer-Hansen, S., Boonen, S. E., Lindquist, S. G., Hammer, T. B. & Diness, B. R., Dec 2023, In: European Journal of Medical Genetics. 66, 12, 5 p., 104872.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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Press/Media
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Fie blev svigtet og overset i skolen i årevis: - Noget gik i stykker i hende undervejs
24/09/2023
1 Media contribution
Press/Media: Press / Media
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Fie blev svigtet og overset i skolen i årevis: - Noget gik i stykker i hende undervejs
24/09/2023
1 Media contribution
Press/Media: Press / Media