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Scientific Reports|March 21, 2026
Progressive cognitive impairment and ventricular tachycardia in a boy with biallelic POLG variants and a de novo RYR2 variationValentina Fumini, Alexandru Ionut Gilea, Elena Tacchetto, et al.
Molecular Genetics & Genomic Medicine|March 8, 2019
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromasEva Trevisson, Valeria Morbidoni, Monica Forzan, et al.
Genes|August 28, 2025
Prenatal Rare 16q24.1 Deletion Between Genomics and Epigenetics: A ReviewValentina Fumini, Romina Bonora, Anna Busciglio, et al.
Cancers|March 6, 2021
Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 VariantsValeria Morbidoni, Elisa Baschiera, Monica Forzan, et al.
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