Publications by authors named "Debora Vergani"

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The contribution of methylation profiling in neuropathological diagnosis of central nervous system tumors in children, adolescent and young adults.
Anna Maria Buccoliero, Laura Giunti, Mirko Scagnet, Milena Guidi, Debora Vergani

Pathologica· December 2025

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Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili

Am J Med Genet A· November 2025

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Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.
Giacomo M Bacci, Elisa Marziali, Sara Bargiacchi, Michel Paques, Gianni Virgili, Debora Vergani

Sci Rep· July 2024

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Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes.
Enrico Attardi, Lucia Tiberi, Giorgio Mattiuz, Daniela Formicola, Elia Dirupo, Debora Vergani

Hemasphere· July 2024

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A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.
Francesca Becherucci, Samuela Landini, Viviana Palazzo, Luigi Cirillo, Valentina Raglianti, Debora Vergani

J Am Soc Nephrol· April 2023

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Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Viviana Palazzo, Valentina Raglianti, Samuela Landini, Luigi Cirillo, Carmela Errichiello, Debora Vergani

Int J Mol Sci· May 2022

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Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Aldesia Provenzano, Andrea La Barbera, Mirko Scagnet, Angelica Pagliazzi, Giovanna Traficante, Debora Vergani

Hum Genet· April 2021

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De novo unbalanced translocations have a complex history/aetiology.
Maria Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello, Sara Bertuzzo, Silvana Beri, Debora Vergani

Hum Genet· October 2018

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SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
Edoardo Errichiello, Noor Mustafa, Annalisa Vetro, Lucia Dora Notarangelo, Hugo de Jonge, Debora Vergani

J Pathol· September 2017

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MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
Annalisa Vetro, Salvatore Savasta, Annalisa Russo Raucci, Cristina Cerqua, Geppo Sartori, Debora Vergani

Eur J Hum Genet· May 2017

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Human identification by lice: A Next Generation Sequencing challenge.
Elena Pilli, Alessandro Agostino, Debora Vergani, Elena Salata, Ignazio Ciuna

Forensic Sci Int· September 2016

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