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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: hellfritzsch mb. 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.
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: hellfritzsch mb. 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.
COVID-19 kræver øget opmærksomhed på børnemishandling.
Larsen LL, Hellfritzsch MB, Petersen KK, Jørgensen GH, Møller-Madsen B, Rölfing JD. Larsen LL, et al. Among authors: hellfritzsch mb. Ugeskr Laeger. 2020 May 11;182(20):V71021. Ugeskr Laeger. 2020. PMID: 33143846 Free article. Danish. No abstract available.
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