Giulia Pascolini

19PUBLICATIONS
18CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Genetics not elsewhere classifiedDevelopmental genetics (incl. sex determination)Testing, assessment and psychometrics
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Publications (19)

|Jan 21, 2026
Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.

Federica Gaudioso, Giulia Pascolini

|Jul 04, 2025
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.

Natasha L Rudy, Adriana Gomes, Tinatin Tkemaladze

|Aug 09, 2024
The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.

Giulia Pascolini, Martina Lipari, Federica Gaudioso

|Apr 26, 2024
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.

Maria Gnazzo, Giulia Pascolini, Giovanni Parlapiano

|Jan 11, 2024
Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.

Giulia Pascolini, Giovanni Di Zenzo, Annarita Panebianco

|Feb 22, 2023
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood.

Giulia Pascolini, Federica Gaudioso, Marina Baldi

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Frequent Collaborators

3 joint publications

Emanuele Agolini

2 joint publications

Daniele Castiglia

1 joint publications

Silvia Majore

1 joint publications

Lucia Micale