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Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome.
Bjerregaard VA, Levy AM, Batz MS, Salehi R, Hildonen M, Hammer TB, Møller RS, Desler C, Tümer Z. Bjerregaard VA, et al. Among authors: hildonen m. Genes (Basel). 2023 Jan 17;14(2):246. doi: 10.3390/genes14020246. Genes (Basel). 2023. PMID: 36833172 Free PMC article.
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
Niceta M, Ciolfi A, Ferilli M, Pedace L, Cappelletti C, Nardini C, Hildonen M, Chiriatti L, Miele E, Dentici ML, Gnazzo M, Cesario C, Pisaneschi E, Baban A, Novelli A, Maitz S, Selicorni A, Squeo GM, Merla G, Dallapiccola B, Tumer Z, Digilio MC, Priolo M, Tartaglia M. Niceta M, et al. Among authors: hildonen m. Eur J Hum Genet. 2024 Jul;32(7):819-826. doi: 10.1038/s41431-024-01597-9. Epub 2024 Mar 25. Eur J Hum Genet. 2024. PMID: 38528056