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Giulia Pascolini

19PUBLICATIONS

18CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Psychological methodology, design and analysisEpigenetics (incl. genome methylation and epigenomics)Genetics not elsewhere classifiedNumerical modelling and mechanical characterisation

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Publications (19)

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|Jan 21, 2026

Malformation Pattern and Molecular Findings in the <i>FGFR1</i>-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

|Nov 25, 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.

Giulia Pascolini, Giovanni Luca Scaglione, Feliciana Mariotti

|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

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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

1 joint publications

Dario Cocciadiferro

1 joint publications

Silvia Morlino

1 joint publications

Marco Castori

1 joint publications

Antonio Novelli

1 joint publications

Paola Grammatico

1 joint publications

Anwar Baban

Frequent Collaborators

3 joint publications

Emanuele Agolini

2 joint publications

Daniele Castiglia

1 joint publications

Silvia Majore

1 joint publications

Lucia Micale

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