Francesca Cambi
Pisa, Italy
Last Updated: 09/26/2026
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Found 8 publications
Enhancing genetic diagnosis of primary ciliary dyskinesia by copy number variants analysis.
Journal: Respiratory medicine
Published: October 10, 2025
22q11.21 Deletions: A Review on the Interval Mediated by Low-Copy Repeats C and D.
Journal: Genes
Published: November 29, 2024
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature.
Journal: Genes
Published: September 24, 2022
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Journal: Prenatal diagnosis
Published: August 05, 2022
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature.
Journal: Molecular syndromology
Published: December 17, 2018
17q12 microduplications: a challenge for clinicians.
Journal: American journal of medical genetics. Part A
Published: June 24, 2014
625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability.
Journal: Journal of human genetics
Published: April 03, 2014
Showing 1-8 of 8
Last Updated: 09/26/2026