Elisabetta Pelo
Florence, Italy
Last Updated: 09/26/2026
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Found 33 publications
A Novel, Ruxolitinib-Sensitive, CCDC6::JAK2 Fusion Gene in a Patient With Atypical, JAK2 Unmutated, Polycythemia Vera-Like, Myeloproliferative Neoplasm.
Journal: American journal of hematology
Published: August 14, 2025
A multidisciplinary model for implementation of nephrogenetics in CKD outpatients: a clinical and data-driven perspective.
Journal: Journal of nephrology
Published: August 02, 2025
Genotype-phenotype relationship in RDH12 retinopathy: a perspective from a pediatric age group.
Journal: Ophthalmic genetics
Published: March 05, 2025
IgA Nephropathy With Membranoproliferative Pattern and Resistance to Immunosuppressive Therapy in Two Patients With Cofactor I Pathogenic Variant.
Journal: Nephrology (Carlton, Vic.)
Published: February 03, 2025
Retinal Dystrophies Associated with Mutations in the RP1 Gene: Genotype-Phenotype Correlations.
Journal: Current issues in molecular biology
Published: December 03, 2024
Looking into the Quantification of Forensic Samples with Real-Time PCR.
Journal: Genes
Published: May 07, 2024
Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients.
Journal: Medicina (Kaunas, Lithuania)
Published: April 24, 2024
The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.
Journal: Cerebellum (London, England)
Published: October 13, 2023
Editorial: Unravelling the basis of non-invasive prenatal screening results.
Journal: Frontiers in genetics
Published: June 26, 2023
Genetic analysis of suicide: a sample study in Tuscany (Central Italy).
Journal: Forensic sciences research
Published: February 23, 2023
Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
Journal: medRxiv : the preprint server for health sciences
Published: February 13, 2023
Last Updated: 09/26/2026