Federica Gaudioso
Milan, 20126, Italy
Last Updated: 09/26/2026
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Found 9 publications
Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.
Journal: Medical sciences (Basel, Switzerland)
Published: July 29, 2025
Keeping up the beat of Kleefstra syndrome.
Journal: Italian journal of pediatrics
Published: May 14, 2025
The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.
Journal: Molecular genetics & genomic medicine
Published: March 08, 2024
A long way to syndromic short stature.
Journal: Italian journal of pediatrics
Published: October 18, 2023
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
Journal: Genes
Published: November 30, 2022
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood.
Journal: Journal of human genetics
Published: October 01, 2022
Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.
Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.
Journal: Journal of molecular neuroscience : MN
Published: August 24, 2020
Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.
Journal: American journal of medical genetics. Part A
Published: December 24, 2019
Functional tricuspid regurgitation: the increasing clinical importance of the "forgotten valve"
Journal: Recenti progressi in medicina
Published: November 02, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026