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Asymptomatic adrenoleukodystrophy in elderly males.
Benzoni C, Fenu S, Pensato V, Mauro E, Gellera C, Pareyson D, Salsano E. Benzoni C, et al. J Neurol. 2020 Jun;267(6):1849-1851. doi: 10.1007/s00415-020-09834-z. Epub 2020 Apr 20. J Neurol. 2020. PMID: 32307584 No abstract available.
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. Eur J Hum Genet. 2024 Mar 25. doi: 10.1038/s41431-024-01597-9. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38528056