Research output per year
Research output per year
Personal profile
Expertises
Rare congenital disorders, including craniofacial syndroms and skeletal dysplasias. Neurofibromatosis von Recklinghausen; Osteogenesis Imperfecta, and other congential syndromes.
Main research areas
Craniofacial disorders, including on-going research field of the aspects of facial and cranial asymmetry.
Skeletal Dysplasias, In-born connective tissue defects; Neurofibromatosis von Recklinghausen (participation with
Danish Cancer Society Research Center)
Current research
Head of the Nordic database for Rare Disorders, Raredis; Descriptional study on Neurofibromatosis von Recklinghausen (participation with Danish Cancer Society Research Center): aspects of living with NF1.
Potential conflicts of interest
None.
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
Research output
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Medfødte misdannelser på hånd og fingre
Translated title of the contribution :Congenital malformations of the hand and fingers Research output: Contribution to journal › Review › peer-review
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Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome
Barington, M., Bak, M., Kjartansdóttir, K. R., Hansen, T. V. O., Birkedal, U., Østergaard, E. & Hove, H. B., 2024, In: American Journal of Medical Genetics. Part A. 194, 8, p. e63581 e63581.Research output: Contribution to journal › Journal article › Research › peer-review
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Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology
Aagaard Nolting, L., Holling, T., Nishimura, G., Ek, J., Bak, M., Ljungberg, M., Kutsche, K. & Hove, H., 2024, In: Clinical Genetics. 106, 3, p. 360-366 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
1 Citation (Scopus) -
Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark
Herlin, L. K., Schmidt, S. A. J., Hermann, X. B., Rønholt, K., Bygum, A., Schuster, A., Lei, U., Mogensen, M., Vinding, G. R., Djursby, M., Hove, H., Blechingberg, J., Graversen, L., Mogensen, T. H., Gjørup, H., Langan, S. M. & Sommerlund, M., 1 May 2024, In: JAMA Dermatology. 160, 5, p. 502-510 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
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The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases
Foss-Skiftesvik, J., Larsen, C. C., Stoltze, U. K., Kofod, T., Hove, H., Bøgeskov, L. & Østergaard, E., 27 Jul 2024, (E-pub ahead of print) In: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery.Research output: Contribution to journal › Review › peer-review
Activities
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Achondroplasia - an up-date
Hove, H. B. (Lecturer)
21 Jan 2019Activity: Talk or presentation › Lecture and oral contribution
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Prader-Willi syndrom
Hove, H. B. (Lecturer)
6 Apr 2018Activity: Talk or presentation › Lecture and oral contribution
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Nordic Skeletal Dysplasia Symposium
Hove, H. B. (Organizer)
8 Mar 2018 → 9 Mar 2018Activity: Participating in or organising an event › Organisation of and participation in conference
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Nordic network for Rare Disease (External organisation)
Hove, H. B. (Member)
2017 → 2019Activity: Membership › Membership in board of company or public organisation
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4th Nordic Conference on Rare Diseases.
Hove, H. B. (Lecturer)
Sept 2016Activity: Talk or presentation › Lecture and oral contribution