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Year Number of Results
2008 1
2009 2
2010 1
2011 2
2013 2
2014 1
2016 2
2017 3
2018 4
2019 4
2020 3
2021 5
2022 3
2023 3
2024 3

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32 results

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Page 1
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 LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M. Herlin LK, et al. Among authors: gjorup h. Eur J Med Genet. 2024 Apr 2;69:104937. doi: 10.1016/j.ejmg.2024.104937. Online ahead of print. Eur J Med Genet. 2024. PMID: 38574886 Free article.
Pycnodysostosis: Characteristics of teeth, mouth and jaws.
Ferlias N, Gjørup H, Doherty MA, Pedersen TK. Ferlias N, et al. Among authors: gjorup h. Orthod Craniofac Res. 2024 Mar 26. doi: 10.1111/ocr.12782. Online ahead of print. Orthod Craniofac Res. 2024. PMID: 38532649
Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark.
Herlin LK, Schmidt SAJ, Hermann XB, Rønholt K, Bygum A, Schuster A, Lei U, Mogensen M, Vinding GR, Djursby M, Hove H, Blechingberg J, Graversen L, Mogensen TH, Gjørup H, Langan SM, Sommerlund M. Herlin LK, et al. Among authors: gjorup h. JAMA Dermatol. 2024 Mar 13:e240036. doi: 10.1001/jamadermatol.2024.0036. Online ahead of print. JAMA Dermatol. 2024. PMID: 38477886
A pilot study comparing optical coherence tomography, radiography, clinical photography, and polarisation microscopy for studies of hypomineralisation disturbances in enamel.
Solgaard Henriksen J, Lauridsen E, Gjørup H, Al-Imam H, Lundgren T, Sabel N, Robertson A, Spin-Neto R, Hermann NV. Solgaard Henriksen J, et al. Among authors: gjorup h. Heliyon. 2023 Feb 14;9(2):e13688. doi: 10.1016/j.heliyon.2023.e13688. eCollection 2023 Feb. Heliyon. 2023. PMID: 36865454 Free PMC article.
Pycnodysostosis in children and adults.
Hald JD, Beck-Nielsen S, Gregersen PA, Gjørup H, Langdahl B. Hald JD, et al. Among authors: gjorup h. Bone. 2023 Apr;169:116674. doi: 10.1016/j.bone.2023.116674. Epub 2023 Jan 13. Bone. 2023. PMID: 36646263 No abstract available.
B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.
Bolund ACS, Langdahl B, Laurberg TB, Hellfritzsch MB, Gjørup H, Møller-Madsen B, Nielsen TØ, Farholt S, Gregersen PA. Bolund ACS, et al. Among authors: gjorup h. Eur J Med Genet. 2021 Dec;64(12):104342. doi: 10.1016/j.ejmg.2021.104342. Epub 2021 Sep 16. Eur J Med Genet. 2021. PMID: 34537402 Free article. Review.
32 results