Alessandra Pelle
Turin, Italy
Last Updated: 09/26/2026
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Found 14 publications
A new c.681dup RUNX1 variant in familial leukemia.
Journal: Familial cancer
Published: October 09, 2025
Identification of a robust DNA methylation signature for Fanconi anemia.
Journal: American journal of human genetics
Published: June 29, 2023
Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event.
Journal: Frontiers in genetics
Published: June 15, 2023
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Journal: Frontiers in genetics
Published: February 13, 2022
Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease.
Journal: Journal of nephrology
Published: October 29, 2021
A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature.
Journal: Clinical dysmorphology
Published: October 21, 2020
The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization.
Journal: Molecular genetics and metabolism
Published: May 18, 2020
Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion.
Journal: Clinical dysmorphology
Published: January 14, 2020
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up.
Journal: Kidney international
Published: December 10, 2018
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child.
Journal: Indian journal of nephrology
Published: September 15, 2017
Last Updated: 09/26/2026