Francesca Del Vecchio Blanco
Naples, Italy
Last Updated: 09/26/2026
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Found 22 publications
CFHR5 Nephropathy Case Report: A Novel Variant Characterized by Tubulointerstitial Kidney Disease.
Journal: Kidney & blood pressure research
Published: February 15, 2025
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant.
Journal: Children (Basel, Switzerland)
Published: January 30, 2025
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.
Journal: American journal of medical genetics. Part A
Published: November 20, 2024
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology.
Journal: Kidney international reports
Published: August 03, 2024
Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.
Journal: Kidney & blood pressure research
Published: January 15, 2024
An atypical Aymé-Gripp phenotype detected by exome sequencing.
Journal: American journal of medical genetics. Part A
Published: May 16, 2023
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.
Journal: International journal of molecular sciences
Published: March 27, 2023
Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency.
Journal: Frontiers in pediatrics
Published: August 31, 2021
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells.
Journal: iScience
Published: July 22, 2021
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement.
Journal: Genes
Published: December 31, 2020
Last Updated: 09/26/2026