Giulia Pascolini
Rome, Italy
Last Updated: 09/26/2026
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Found 42 publications
Peculiar association of congenital cutaneous features in a child with a novel complex chromosome rearrangement.
Journal: Italian journal of dermatology and venereology
Published: May 21, 2026
Multiple hereditary infundibolocystic basal cell carcinoma: report of a sporadic case with a novel pathogenic germline variant in SUFU.
Journal: Dermatology reports
Published: October 23, 2025
Efficacy of JAK inhibitors in treating dominant dystrophic epidermolysis bullosa and alopecia areata.
Journal: Italian journal of dermatology and venereology
Published: October 03, 2025
Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.
Journal: Medical sciences (Basel, Switzerland)
Published: July 29, 2025
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.
Journal: American journal of medical genetics. Part A
Published: April 29, 2025
Keratitis, Ichthyosis, and Deafness Syndrome with Endocarditis and Myelitis: A Rare Case Report.
Journal: Case reports in dermatology
Published: January 18, 2025
An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients.
Journal: Diagnostics (Basel, Switzerland)
Published: December 11, 2024
Broadening the PHIP-Associated Neurodevelopmental Phenotype.
Journal: Children (Basel, Switzerland)
Published: October 14, 2024
Clinical Improvement of Bullous Pemphigoid with Hyperkeratosis and Palmoplantar Keratoderma in Two Patients Treated with Dupilumab.
Journal: Acta dermato-venereologica
Published: September 11, 2024
Evidence of a Dose-Dependent Phenotypic Effect of the Desmoplakin (DSP) c.273+5G > A Variant in a Child With Palmoplantar Keratoderma and Woolly Hair Association.
Journal: Experimental dermatology
Published: August 10, 2024
The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.
Journal: Molecular genetics & genomic medicine
Published: March 08, 2024
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.
Journal: Clinical genetics
Published: February 12, 2024
Last Updated: 09/26/2026