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Helicobacter|August 4, 2016
Helicobacter pylori infection contributes to placental impairment in preeclampsia: basic and clinical evidencesNicoletta Di Simone, Chiara Tersigni, Simona Cardaropoli, et al.
Clinical Genetics|August 17, 2021
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrumDiana Carli, Silvia Kalantari, Rosaria Manicone, et al.
Genes|October 29, 2025
Expanding Clinical and Genetic Landscape of <i>SATB2</i>-Associated SyndromeVerdiana Pullano, Federico Rondot, Ilaria Carelli, et al.
Genes, Chromosomes & Cancer|July 2, 2022
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathiesAlessandro Mussa, Antonella Turchiano, Simona Cardaropoli, et al.
Genes, Chromosomes & Cancer|August 23, 2022
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndromeDiana Carli, Simona Cardaropoli, Daniele Tessaris, et al.
Cancers|December 17, 2024
Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann SpectrumDiana Carli, Federico Rondot, Maria Luca, et al.
The Journal of Pediatrics|June 30, 2024
Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in ChildhoodSimone Bellucca, Diana Carli, Andrea Gazzin, et al.
Genes|January 21, 2022
MEK Inhibition in a Newborn with <i>RAF1</i>-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular DiseaseAlessandro Mussa, Diana Carli, Elisa Giorgio, et al.
Clinical Genetics|November 27, 2024
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical ManifestationsLisa Pavinato, Silvia Carestiato, Slavica Trajkova, et al.
Cancers|February 11, 2023
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer DevelopmentMaria Luca, Diana Carli, Simona Cardaropoli, et al.
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