Research output per year
Research output per year
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The fingerprint consists of automatically generated concepts related to the associated persons. It is updated automatically, when new content is added.
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Research output
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Biochemical and clinical manifestations in adults with hypophosphatasia: a national cross-sectional study
Hepp, N., Frederiksen, A. L., Duno, M., Jørgensen, N. R. & Jensen, J-E. B., Dec 2022, In: Osteoporosis International. 33, 12, p. 2595-2605 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Bone Deformities and Kidney Failure: Coincidence of PHEX-Related Hypophosphatemic Rickets and m.3243A>G Mitochondrial Disease
Nielsen, S. R., Hansen, S. G., Bistrup, C., Brusgaard, K. & Frederiksen, A. L., Dec 2022, In: Calcified Tissue International. 111, 6, p. 641-645 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Bone-microarchitecture and bone-strength in a sample of adults with hypophosphatasia and a matched reference population assessed by HR-pQCT and impact microindentation
Hepp, N., Folkestad, L., Møllebæk, S., Frederiksen, A. L., Duno, M., Jørgensen, N. R., Hermann, A. P. & Jensen, J-E. B., Jul 2022, In: Bone. 160, 116420.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile1 Citation (Scopus)13 Downloads (Pure) -
Familial Multiple Lipomatosis - analyses of genetic etiology by whole genome sequencing and delineation of the clinical phenotype
Bjerrelund, J., Larsen, M. J., Schrøder, H. D., Frost, M., Kassem, M., Ousager, L. B. & Frederiksen, A. L., 7 Apr 2022, In: European Journal of Human Genetics. 30, Suppl. 1, p. 205 1 p.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
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Homozygous missense variant of PTH (c.166C>T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child
Andersen, S. L., Frederiksen, A. L., Rasmussen, A. B., Madsen, M. & Rønholt Christensen, A-M., 9 May 2022, In: Journal of Pediatric Endocrinology and Metabolism. 35, 5, p. 691-694 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
2 Citations (Scopus)
Press/Media
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Aalborg Universitet får ny professor i klinisk genetik
01/03/2022 → 07/03/2022
2 items of Media coverage
Press/Media: Press / Media