Projects per year
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Dive into the research topics where Pernille Axél Gregersen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
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
Projects
- 2 Active
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CSS-AUH Skeletdysplasinetværk
Gregersen, P. A. (Project manager), Vogel, I. (Participant), Davidsen, M. (Participant), Goetliebsen, M. (Participant), Hellfritzsch, M. B. (Participant), Petersen, K. K. (Participant), Beck-Nielsen, S. (Participant), Rejnmark, L. (Participant) & Gjørup, H. (Participant)
01/09/2016 → …
Project: Other
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Retinoblastom projekt
Gregersen, P. A. (PI), Urbak, S. F. (Collaborator), Funding, M. (Collaborator), Overgaard, J. (Collaborator), Alsner, J. (Collaborator), Lou, S. (Collaborator), Staffieri, S. (Collaborator) & Gallie, B. (Collaborator)
01/06/2015 → …
Project: Research
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The first case of Branchio-oto-renal (BOR) syndrome caused by a deep intronic variant in EYA1
Lorans, M., Skipper, K. A., Nielsen, T. Ø., Drue, S. O., Nielsen, C. K., Thorup, C. V., Nørholt, S. E., Thøstesen, L. M. & Gregersen, P. A., 2026, In: Molecular Genetics and Genomics. 301, 1, p. 12Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines
White, S. M., Wondergem, A. P., Breet, I., Dittmaier, M., Bell, K., Richmond, C. M., Hardikar, W., Bhatia, K., Quinlan, C., Orchard, D., D’Souza, A., Chazin, W. J., Smith, C., Sparkes, R., Lam, S., Carter, A., Hopkin, R. J., Khendek, L., Sullivan, B. R. & Becher, N. & 7 others, , Oct 2025, In: European Journal of Human Genetics. 33, 10, p. 1252-1263 12 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access2 Citations (Scopus) -
At the epicentre; a qualitative study of how parents of a child with de novo retinoblastoma experience the diagnostic process and primary treatment
Lou, S., Carstensen, K., Mikkelsen, P. A., Jensen, P. S., Høgild, M. L., Christensen, R. T., Overgaard, J., Urbak, S. F., Staffieri, S. E. & Gregersen, P. A., 16 Nov 2025, In: BMJ Open. 15, 11, p. e106738 e106738.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
Frontometaphyseal dysplasia associated with the FLNA p.G1576R variant
Huno, M. R., Nielsen, T. Ø., Hellfritzsch, M. B., Markholt, S., Davidsen, M., Andersen, S. M. L., Kjeldsen, S. M., Krusenstjerna-Hafstrøm, T., Robertson, S. P. & Gregersen, P. A., Jan 2025, In: Rare. 3, 100087.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
Phenotypic variability in a family with an inherited KAT6A frameshift variant
Ringsted, S. B., Markholt, S., Andreasen, L. & Gregersen, P. A., Feb 2025, In: European Journal of Medical Genetics. 73, 104993.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access
Activities
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The 14th biannual International Skeletal Dysplasia Society Meeting
Gregersen, P. A. (Participant)
Sept 2019Activity: Participating in or organising an event types › Participation in or organisation af a conference
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2nd Asia Pacific Bone Disorders Symposium
Gregersen, P. A. (Participant)
10 Nov 2018 → 11 Nov 2018Activity: Participating in or organising an event types › Participation in or organisation af a conference
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University of Melbourne
Gregersen, P. A. (Visiting researcher)
1 Oct 2018 → 15 Mar 2019Activity: Visiting an external institution types › Visiting an external academic institution
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YP aftenkursus i Klinisk Genetik og Neuropædiatri
Andersen, B. N. (Lecturer) & Gregersen, P. A. (Lecturer)
30 Aug 2018Activity: Evaluation, external lectures and examination › External lectures › Communication
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Nordic Retinoblastoma Meeting
Gregersen, P. A. (Speaker)
May 2018Activity: Participating in or organising an event types › Participation in or organisation af a conference
Press/Media
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Sjældne Diagnoser; Ugens genetiker: Pernille Axél Gregersen
20/02/2023
1 Media contribution
Press/Media: Press / Media
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