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Journal of Genetics|April 5, 2019
Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the <i>RPS6KA3</i> geneVera Uliana, Francesco Bonatti, Valentina Zanatta, et al.
ACG Case Reports Journal|June 22, 2026
Benign Neoplasms in Biallelic Nth-Like DNA Glycosylase 1-Associated Tumor Syndrome: Expanding the Clinical PhenotypeDaniele Macchi, Eleonora Cortellazzi, Vera Uliana, et al.
Heliyon|January 3, 2023
Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variantWalter Serra, Giulia Vitetta, Vera Uliana, et al.
Pediatric Neurology|February 4, 2014
Setleis syndrome: genetic and clinical findings in a new case with epilepsyLucio Giordano, Robert J Desnick, Anna Molinaro, et al.
International Journal of Molecular Sciences|February 10, 2024
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber NeuropathyFranco Gemignani, Antonio Percesepe, Francesca Gualandi, et al.
Frontiers in Oncology|August 29, 2019
Mechanism of Action and Clinical Efficacy of CDK4/6 Inhibitors in BRCA-Mutated, Estrogen Receptor-Positive Breast Cancers: Case Report and Literature ReviewAnna Maria Militello, Teresa Zielli, Daniela Boggiani, et al.
Pediatric Nephrology (Berlin, Germany)|March 8, 2011
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2Vera Uliana, Elena Marcocci, Mafalda Mucciolo, et al.
European Journal of Medical Genetics|September 26, 2023
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratoryDavide Martorana, Valeria Barili, Vera Uliana, et al.
European Journal of Medical Genetics|April 19, 2012
19q13 microdeletion syndrome: Further refining the critical regionFrancesca Forzano, Flavia Napoli, Vera Uliana, et al.
European Journal of Medical Genetics|October 10, 2022
A patient with mosaic USP9X gene variantValeria Barili, Andrea Dall'Asta, Vera Uliana, et al.
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