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.
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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
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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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 -
Psychosocial Interventions to Improve Wellbeing in Teenage and Young Adult Post-Treatment Survivors of Childhood Cancer: A Systematic Review
O'Donnell, N., Ellis, L., Morgan, J. E., Gregersen, P. A., Willard, V., Howell, D. & Phillips, B., Feb 2025, In: Psycho-Oncology. 34, 2, e70081.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research › peer-review
Open Access1 Citation (Scopus) -
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, 101751.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants
Herlin, L. K., Herlin, M. K., Blechingberg, J., Rønholt, K., Graversen, L., Schmidt, S. A. J., Jørgensen, M. W., Hellfritzsch, M. B., Hald, J. D., Beck-Nielsen, S. S., Gjørup, H., Andersen, B. N., Gregersen, P. A. & Sommerlund, M., Jun 2024, In: European Journal of Medical Genetics. 69, 8 p., 104937.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access1 Citation (Scopus) -
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant
Seiersen, K. V., Henriksen, T. B., Andelius, T. C. K., Andreasen, L., Diemer, T., Gudmundsdottir, G., Vogel, I., Gjørup, V. & Gregersen, P. A., Feb 2024, In: European Journal of Medical Genetics. 67, 4 p., 104894.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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